Topic

6
1. 2. 3. 4. 5. 6.

Inheritance and Genetics

LEARNING OUTCOMES
By the end of this topic, you should be able to: Describe the process of mitosis and meiosis; Explain the differences among gene, chromosome, allele and DNA; State Mendels law that explains the principles of heredity; Explain the principles and types of variation; List some examples of genetic disorders in human beings; and Discuss the meaning of genetic engineering.

INTRODUCTION

Look at Figure 6.1 which shows a grandmother, a mother and a daughter. Do they look the same? Why is the mothers hair colour (which is brown) not the same as the grandmothers (which is blonde), but the granddaughters hair colour is the same as the grandmothers? How is the trait passed on from the grandmother to the granddaughter?

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Figure 6.1: Grandmother, mother and granddaughter with different hair colour

The answers to these questions will be explored when we study this topic on genetics. Genetics is a branch of biology that deals with the principles and mechanisms of heredity and with the genetic contribution to similarities and differences among related organisms. Before we discuss the answers, we will first look at how cells divide. Then we will look at the genes that determine how traits will appear to you and how these genes are passed on from parent to children (i.e. Mendels law). We will also study how siblings differ from one another, although we receive the same genes from our father. However sometimes accidents happen to affect our genes, causing genetic disorders. Lastly, we will briefly learn about genetic engineering where knowledge of genetics is used to produce technology that could enhance the quality of our lives.

6.1

MITOSIS AND MEOISIS

The life of an organism is handed over from one generation to the next in the form of new cells. As we have learned earlier, a unicellular individual produces more of its kind by dividing into two. In a multicellular organism, however, this does not happen. Its life begins as a single cell. It is repeated through cell divisions to produce many cells of the body. In fact, several cells in the reproductive organs divide continuously to form reproductive cells, thus giving rise to the next generation. What happens when a cell divides? In a multicellular organism, this cell must pass on genetic information to a specific kind of protein. The protein that carries

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this genetic information is the DNA (deoxyribonucleic acid), which will divide among many chromosomes in the nucleus of the cell. The mother cell must be replicated and divided equally so that both new daughter cells will have two new nuclei. Each cell must receive a complete set of chromosomes containing all genetic information, for example, ribosomes for making proteins, mitochondria for supplying energy, lysosomes for breaking down enzymes and molecules in the cell, and so on. The process of cell division in the nucleus is the most complicated. The nuclear division must replicate the chromosomes accurately into two complete sets of cells. There are two kinds of nuclear division in a cell mitosis and meiosis. Let us now learn about them.

6.1.1

Mitosis

Mitosis is the mechanism of cell division in the form of asexual reproduction of an organism, which results in the production of two daughter cells from a single parent cell. Daughter cells are identical to the original parent cell, in effect making a cellular photocopy. The mother cell produces two daughter cells with two nuclei with the same number of chromosomes as in the original nucleus. In a typical multicellular organism, the process of mitosis can be divided into four principal stages. Each stage is illustrated and explained in Table 6.1.
Table 6.1: Stages of Mitosis Illustration Interphase The cell is at rest most of the time. However, it is actually carrying on the ongoing functions of a cell: absorbing nutrients, utilising oxygen, excreting wastes, making ATP and keeping its system in balance. The chromatin in the cell spread out in distinct mass. Nucleus and nucleolus are visible. Each chromatin replicate/duplicate during this phase. Phases

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Stage 1 Prophase Can you see the chromosomes in the nucleus? The grey structures that look like lines are the beginning of structures called spindles. Chromosomes coil and condense to become shorter and thicker.

Stage 2 Metaphase The chromosomes are lined up or aligned at the equatorial plate, in the middle of the cell. They divide so that there are now two copies of each one. Centromere is attached to spindle fibre. The spindles are about to pull copies of the chromosomes to each end of the cell.

Stage 3 Anaphase The centromeres divide. Now you can see the chromosomes are pulled towards the poles of the spindles when the spindles fibre contract. Here, this process duplicates and separates the chromosomes. Each new cell will be an exact copy of the old one (mother cell).

Stage 4 Telophase The cell is ready to reconstruct a nucleus at each end of the cell. Daughter chromosomes arrive at the poles ready to be enclosed in a nucleus again. Then, the microtubules disappear. The condensed chromatin expands and the nuclear envelope reappears. The replication job is done!

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Cytokinesis The process where the cell is divided into two is cytokinesis. The cytoplasm divides and cell membrane pinches inward and finally produces two daughter cells. With the two nuclei already at opposite poles, the cell cytoplasm separates; the cell pinches in the middle, and ultimately leads to cleavage. The cell becomes two identical cells. The nuclei have formed. The chromosomes are loosening up. At this last stage, the cytoplasm, which fills the dividing cells, is divided between them. All the necessary extra parts are present in each new cell. Source: curriculum.calstatela.edu

Table 6.2 shows an experiment examining the process of mitosis in onion cells using a microscope.
Table 6.2: Mitosis in Onion Cells Problem Materials Examining the process of mitosis in onion cells using a microscope. Light microscope, several glass slides and cover slips, forceps, dropping pipette, 5% iodine solution, onion roots, and onion root tip prepared slide. 1. 2. 3. 4. 5. 6. 7. 8. Prepare a light microscope. Using forceps, place your onion root tip on the stage of the microscope. Using the lower pore lens, use the course and then fine adjustment to bring the image into focus. Locate an area that has many cells in various stages of mitosis. Draw the cell for each stage. Increase the magnification using high power and focus on the images. Again, draw the stages of mitosis you see. Label your drawing. Discuss in your group, then in the class.

Procedure

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6.1.2

Meiosis

Just like in mitosis, the chromosomes in humans must replicate before meiosis begins. Meiosis differs from mitosis primarily because there are two cell divisions in meiosis, resulting in cells with a haploid number of chromosomes. Meiosis is a type of cell division by which germ cells (eggs and sperm) are produced. Here, the process occurs when the reproductive cells of male and female during the sexual contact fertilised. It involves a reduction in the amount of genetic material of DNA. Meiosis comprises two successive nuclear divisions with only one round of DNA replication. Traditionally, meiosis is divided into four stages like in mitosis. However, the replication process involves double replication of each cell, thus having Prophase I, Metaphase I, Anaphase I and Telophase I. In meiosis II, the stages are called Prophase II, Metaphase II, Anaphase II and Telophase II. As in mitosis, the process also starts from a period called interphase. The four stages of meiosis replication can be described for each nuclear division. (a) First Division of Meiosis This first division separates the two versions of each chromosome. Refer to Table 6.3.
Table 6.3: First Division of Meiosis Phases Interphase Prophase I Description Before meiosis begins, genetic material is duplicated. Duplicated chromatin condenses. Each chromosome consists of two closely associated sister chromatids. These two versions of each chromosome pair up and exchange segments. Synapsis and crossingover will occur during the later part of this stage. Homologous chromosomes align at the equatorial or central plane. Homologous pairs separate with sister chromatids. One version of each chromosome moves to a pole of the cell and the other version moves to the opposite pole. The individual chromosomes gather at each of the two poles. These two daughter cells are formed with each daughter containing only one chromosome of the homologous pair. The cytoplasm divides, cell membrane pinches inward and finally produces two daughter cells. The cell divides into two.

Metaphase I Anaphase I

Telophase I

Cytokinesis

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After an interval of variable time, meiosis II is ready to occur. The number of chromosomes in this process is reduced and are called haploid. (b) Second Division of Meiosis This event separates the two replicas of each chromosome. It is a mitotic division involving the product of meiosis I. Refer to Table 6.4.
Table 6.4: Second Division of Meiosis Phases Interphase Prophase II Description Interval time before meiosis II begins; genetic material is duplicated. DNA does not replicate. At the two poles of the cell, the chromosomes enter a brief prophase II. Each nuclear envelope breaks down as a new spindle forms. No synapsis and crossing over occur. Chromosomes align at the equatorial plate. Spindle fibres bind to both sides of the centromeres. Microtubules spindle apparatus attaches to the centromere of the chromosomes. Spindle fibres contract, dividing the centromeres and sister chromatids migrate separately or oppositely to each pole. The nuclear envelope reform around the four sets of daughter chromosomes. Cell division is complete. Four haploid daughter cells are obtained. The cytoplasm divides; cell membrane pinches inward and finally produces two daughter cells each. The cells become four haploid.

Metaphase II

Anaphase II Telophase II

Cytokinesis

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ACTIVITY 6.1
Study the following diagram. What is happening to the number of chromosomes at each stage? Note: Count each chromatid as a separate chromosome.

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ACTIVITY 6.2
Study the following diagram to compare between mitosis and meiosis. Use a graphic organiser to write and explain their stages, processes, similarities and differences.
OKVQUKU"

Source: Adapted from Johnson, G. B. (2000). The living world (2nd ed.). Boston, MA: McGraw Hill Higher Education, p. 155.

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SELF-CHECK 6.1
Which of the following statements are true? 1. 2. Mitosis is the cell division when germ cells are produced. Mitosis is the mechanism of cell division in the form of asexual reproduction of an organism, which results in the production of two daughter cells from a single parent cell. Anaphase is when the chromosomes are lined up or aligned at the equatorial plate, in the middle of the cell. The chromosome number is halved in meiosis. Meiosis I is just like mitosis. The individual chromosomes gather at each of the two poles. This describes telophase in mitosis and telophase I in meiosis.

3. 4. 5. 6.

6.2

CHROMOSOMES AND GENES

Cell is the basic unit of life. The organelle (inside the cell) is responsible for genetic inheritance to be found in the nucleus, mitochondria and chloroplast. The four basic terminologies that you should be able to understand and differentiate before we discuss in detail how traits are passed on from one generation to another are deoxyribonucleic acid (DNA), genes, chromosome and alleles.

6.2.1

Deoxyribonucleic Acid (DNA)

DNA molecules are large and complex. They carry the genetic code that determines the characteristics or traits of a living thing. Most of the DNA is placed within the nucleus and is called nuclear DNA. However, a small portion of DNA can also be found in the mitochondria and is called mitochondrial DNA or mtDNA.

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There are four bases in the DNA molecule Adenine (A), Thymine (T), Cytosine (C) and Guanine (G). DNA bases pair up with each other, A with T and C with G, to form units called base pairs. Each base is also attached to a sugar molecule and a phosphate molecule. A base, sugar and phosphate in combination is called a nucleotide. Nucleotides are arranged in two long strands that form a spiral called a double helix (see Figure 6.2). This looks like a twisted ladder and the base pairs form the rungs of the ladder and the sugar and phosphate molecules form the sides of the ladder. The structure of the DNA helix was presented by James Watson and Francis Crick in 1953 and it won them the Nobel Prize. DNA in humans contains around three billion bases and these are similar in two persons for about 99% of the total bases. These bases are sequenced differently for different information that needs to be transmitted. This is similar to the way that different sequences of letters form words and sequences of words form sentences. The DNA can make copies of itself. Both the strands of the DNA open up and make a copy of each and become two DNA stands. Thus, each new DNA has one copy of the old DNA from where the copy is made. Except for identical twins, each persons DNA is unique. This is why people can be identified using DNA fingerprinting. DNA can be cut up and separated, forming a sort of bar code that is different from one person to the next.

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Figure 6.2: DNA double helix Source: http://www2.le.ac.uk

6.2.2

Gene

A gene is the unit for genetics. It is a short piece of DNA, which tells the body how to build a specific protein. Each gene codes for a specific protein by specifying the order in which amino acids must be joined together. There are approximately 30,000 genes in each cell of the human body. The combination of all genes makes up the blueprint for the human body and its functions. Gene is a functional unit that expresses a specific protein or group of amino acids. As a result, a gene controls a particular inheritable trait such as the colour of our hair, colour of our eyes, height as well as all the features of our body. In short, gene expressions shall determine what kind of features that we are going to have in our body. This can be inherited to the future generation.

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6.2.3

Chromosomes

Genes are packaged in bundles called chromosomes. Chromosomes come in pairs.

Normally, each cell in the human body has 23 pairs of chromosomes or a total of 46 chromosomes. Half comes from the mother, while the other half comes from the father. Of those, one pair is the sex chromosomes which determine whether you are male or female, plus some other body characteristics, and the other 22 pairs are autosomal chromosomes which determine the rest of the bodys makeup. The mother always contributes an X chromosome to the child. The father may contribute an X or a Y. Therefore, it is the father that determines the gender of the child. Figure 6.3 shows the relationship among the cell, its nucleus, chromosomes in the nucleus and genes.

Figure 6.3: Relationship among the cell, its nucleus, chromosomes in the nucleus and genes Source: http://www.bbc.uk

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6.2.4

Alleles
Alleles are the alternative pairs for genes.

Location of alleles is always corresponding to the homologous chromosome. As shown in Figure 6.4, gene A has two alleles (A and a) and both alleles are located correspondingly in a pair of homologous chromosomes. We have 23 sets of chromosomes (haploid state) and each set has two alleles in the diploid state. For example, a gene that controls the height of human beings would have two alleles tall and short.

Figure 6.4: Homologous chromosomes Source: http://www.linkstolearning.com

ACTIVITY 6.3
1. 2. 3. Referring to Figure 6.4, what do B and b mean? Compare chromatin with chromosome. What do you think is the difference? Is nucleolus the alternative name for nucleus?

In living organisms, we may observe a range of potential characters for a single character. What does it mean? Let us look at it this way: three siblings might have curly or straight hair; and lobed or unlobed ears. Thus, one character (hair type) has two potential characters (curly or straight). Those characters that we observe are called phenotype or phenotypic characters. In other words, it is the physical traits that are observable with our naked eyes. In

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this context, a phenotypic character could be a dominant or recessive one. A dominant or a recessive trait could be selected for an organism depending on the environmental condition. If tall is the dominant character and selective over the recessive character of short, then tall shall be selectable and prominent in a population. Nevertheless, you should bear in mind that this does not mean that short is a bad character or tall is a good character. This understanding shall be applied to other dominant and recessive characters as well neither are good nor bad. So, basically, we can summarise this understanding as below: Phenotypic characters for height Dominant phenotype: tall Recessive phenotype: short Genotype is another concept in genetics that you should understand in this topic. If phenotype is the external/physical characters that are observable, then genotype refers to the observable genetic make-up for that particular character (phenotype). In this case, you will know that the same character would possess a different genetic make-up. Lets say A and a represent the alleles for tall and short respectively. Refer to the following situation: Genotypic characters Dominant phenotype: Tall (AA) Dominant phenotype: Tall (Aa) Recessive phenotype: Short (aa) Next, we will learn how to differentiate between homozygous and heterozygous. Basically, homozygous applies when two allelic pairing for a particular gene/character is similar. For example, in AA and aa. Here, you would say AA is homozygous dominant and aa is homozygous recessive. On the other hand, Aa would be called heterozygous dominant a different allelic pairing.

SELF-CHECK 6.2
1. 2. Differentiate between homologous and homozygous. In genetics, heterozygosity is more desirable than homozygosity. Discuss this phrase.

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ACTIVITY 6.4
1. What is the difference between mitochondria DNA and chloroplasts DNA? How many types of DNA do we have in animals?

2.

6.3

MENDELS LAW

Initiated by Gregor Mendel (1865) based on his experiments on plants, Mendels law refers to principles of heredity. There are two main principles or laws. Let us look at both laws.

6.3.1

Mendels First Law

In the first law, also known as Law of Segregation (see Figure 6.5), Mendel states that two factors (2n) from a zygote shall be segregating or separating randomly into a gamete (n) during meiosis. Gamete is referring to the sperm and ovum.

Figure 6.5: Mendels First Law

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6.3.2

Mendels Second Law

Mendels second law is called Law of Independent Assortment. In this particular law, progenies are found to be different regardless of having the same parent. It states that during gamete formation, the segregation of the alleles of one allelic pair is independent of the segregation of the alleles of other genes. Lets see a few examples that applies Mendels law. (a) Monohybrid Cross What happens when you cross a homozygous tall plant with a homozygous dwarf plant? Solution: Lets say tall is dominant to dwarf. Let T be the allele for tall and t for dwarf. Parent (P): Homozygous Tall TT Gamete (G): only T u Homozygous Dwarf tt only t

F1 generation: Genotype Phenotype

Tt tall

Then the F1 generation is self-crossed to produce F2 generation We can use a Punnett square to show the result (see Table 6.5).
Table 6.5: Result of Monohybrid Cross T T t TT Tt t Tt tt

So F2 genotype ratio is 1TT : 2Tt : 1tt F2 phenotypic ratio is 3 tall : 1 dwarf.

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(b)

Dihybrid cross Lets say we cross a purple, inflated pod with a white, constricted pod. Purple colour (P) is dominant over white (p) flowers, and inflated pods (I) are dominant over constricted (i). Solution: Here is what the cross looks like for two of Mendel's traits combined, flower colour and pod characteristics (see Table 6.6).
Table 6.6: Dihybrid Cross for Purple and White Pod

P1 generation Gametes F1 genotype F1 phenotype

PPII PI only PpIi Purple inflated

ppii Pi only

Self-pollinate the F1 purple-flowered, inflated pod plants. What is the F2 ratio? Would the phenotypic ratio be 3:1 as in monohybrid cross? Lets use the Punnett Square to see the results (see Table 6.7).
Table 6.7: Results for Dihybrid Cross for Purple and White Pod PI PI Pi pI pi PPII PPIi PpII PpIi Pi PPIi PPii PpIi Ppii pI PpII PpIi ppII ppIi pi PpIi Ppii ppIi ppii

The phenotypic dihybrid ratio is 9:3:3:1. This ratio translate to nine purple inflated, three purple constricted, three white inflated and one white constricted.

SELF-CHECK 6.3
From the above example, what is the meaning of a monohybrid cross?

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6.3.3

Genetic Modifications

As knowledge on chromosomes has been developing over a few decades, the monohybrid ratio (3:1) and dihybrid ratio (9:3:3:1) in Mendels laws have been modified. Thus, new concepts have been developed. The concepts are dominance, lethal gene and epistasis. (a) Dominance (i) (ii) Incomplete dominance Third phenotype resulted from the blending of the parental traits (in principle, two traits); and Codominance Third phenotype raised when none of the alleles were dominant or recessive. Both parental traits (in principle, two traits) are observed in the heterozygous condition.

(b)

Lethal gene Presence of some genes/alles in the homozygous state may bring lethality to the organism. Mostly, this happens with recessive genes. Epistasis This modification to the Mendelian laws lies in the interaction between two genes located at two different locus. The interaction involves suppressing one of the genes. Thus, the suppressing gene shall be expressed in this interaction.

(c)

ACTIVITY 6.5
Solve the following activities. 1. In pea plants, spherical seeds (S) are dominant to dented seeds (s). In a genetic cross of two plants that are heterozygous for the seedshaped trait, what fraction of the offspring should have spherical seeds? In summer squash, white fruit colour (W) is dominant over yellow fruit colour (w) and disk-shaped fruit (D) is dominant over sphereshaped fruit (d). If a squash plant true-breeding for white, diskshaped fruit is crossed with a plant true-breeding for yellow, sphere-shaped fruit, what will the phenotypic and genotypic ratios be for the F1 generation? How about the F2 generation?

2.

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SELF-CHECK 6.4
1. 2. What did Mendel state about the law of segregation? Explain lethal genes.

6.4

VARIATION

Take a look at Figure 6.6. This family has four children. Each of the children gets their genes from the same parent. Yet they look different from each other. Why? These differences are called variation.

Figure 6.6: A family showing variation Source: www.thestar.com.my

Variation due to genetic causes is inherited variation. For example, children usually look a little like their father, and a little like their mother, but they will not be identical to either of their parents. This is because they get half of their inherited features from each parent.

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Here are some examples of inherited variation in humans: (a) (b) (c) Eye colour; Hair colour; and Skin colour.

Another example would be ear lobes. Whether you have lobed or lobeless ears is due to genetic causes as well (see Figure 6.7).

Figure 6.7: Lobed and lobeless ear Source: www.bbc.co.uk

6.4.1

Environmental Factors

Some variation within a species is inherited, and some variation is due to the environment. However, some variation is due to acombinationof both. Variation can also occur due to environmental factors such as: (a) (b) (c) Exposure to radioactive activities; Direct exposure to prolonged sunlight; and Contaminated food and drinking water.

Listed above are some of the environmental factors (outside of human body) that have a high potential in modifying the protein structures inside our body. This could be long term or short term. When the protein structures are distorted, they will no longer be able to perform their basic functions.

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6.4.2

Combined Genetic and Environmental Factors

Some features vary because of a combination of genetic causes and environmental causes. For example, identical twins inherit exactly the same genetic information from their parents. Nevertheless if you take a pair of twins, and twin A is given more to eat than twin B, twin A is likely to end up heavier. (a) Mutation Mutation can also cause variation. It can be defined as a sudden change in the genetic make-up or genome of the organisms. The change is permanent. Basically, there are two basic types of mutations: gene and chromosome mutation. (i) Gene Mutation There are many different ways that DNA can be changed, resulting in different types of mutation. Table 6.8 shows a summary of a few of these mutations.
Table 6.8: Gene Mutation Types of Gene Mutation Substitution A substitution is a mutation that exchanges one base for another (i.e., a change in a single chemical letter such as switching an A to a G). Insertion Insertions are mutations in which extra base pairs are inserted into a new place in the DNA. Deletion Deletions are mutations in which a section of DNA is lost or deleted. Frameshift Since protein-coding DNA is divided into codons three bases long, insertions and deletions can alter a gene so that its message is no longer correctly parsed. These changes are called frameshifts. For example, consider the sentence, "The fat cat sat." Each word represents a codon. If we delete the first letter and parse the sentence in the same way, it does not make sense. In frameshifts, a similar error occurs at the DNA level, causing the codons to be parsed incorrectly. This usually generates truncated proteins that are as useless as "hef atc ats at" is uninformative. Source: http://evolution.berkeley.edu Description

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(ii)

Chromosome Mutation Chromosome mutations can result in changes in the number of chromosomes in a cell or changes in the structure of a chromosome. Unlike a gene mutation which alters a single gene or larger segment of DNA on a chromosome, chromosome mutations change and impact the entire chromosome. Mutations happen for the following reasons: x DNA fails to copy accurately Most of the mutations that we think matter to evolution occur naturally. For example, when a cell divides, it makes a copy of its DNA and sometimes the copy is not quite perfect. That small difference from the original DNA sequence is a mutation (see Figure 6.8).

Figure 6.8: Mutated copy of DNA Source: http://evolution.berkeley.edu

External influences can create mutations Mutations can also be caused by exposure to specific chemicals or radiation. These agents cause the DNA to break down. This is not necessarily unnatural even in the most isolated and pristine environments, DNA breaks down. Nevertheless, when the cell repairs the DNA, it might not do a perfect job of the repair. So the cell would end up with DNA slightly different than the original DNA and hence, a mutation.

ACTIVITY 9.3

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ACTIVITY 6.6
1. With regard to the atomic bombing in Hiroshima and Nagasaki, Japan, during the Second World War, what do you think is the relationship between atomic bombs and human mutations? Smoking leads to lung cancer. Divide your students into pairs and evaluate their maturity in understanding the concept of mutation and how cancer is considered as a kind of mutation. After the discussion, ask your students to present their answers to the class. (Hint: Include this activity as part of the students assessment marks.) Heavy metals are accumulated in the deep oceans fish like tuna. Predict the effects of eating tuna that is contaminated with heavy metals in the ocean. (Hint: Use the concept of bioaccumulation and bioavailability in explaining your answers.)

2.

3.

6.4.3

Continuous and Discontinuous Variation

Continuous and discontinuous variation are forms of variation. In determining whether a characteristic is passed from a generation to generation due to heredity or inheritance, we use these forms of variations to classify the characteristic. Continuous variation are usually in the form of quantitative data. For example, height. The data for height are varying. For instance, the range of height for a secondary school student in Malaysia is from 150cm to 183cm. Discontinuous variation on the other hand, is in the form of qualitative data. For example, blood type. The data are discrete and without a range. For instance, there are only four possibilities in humans blood types: A, B, AB and O.

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ACTIVITY 6.7
1. 150kg, 89kg, 45kg, 59kg, 70kg, 44kg, 50kg, 66kg, 54kg and 40kg. Assume that these are the recorded weights of your students in the class. What type of data do you think are these? Refer to question (1) and plot a histogram on a graph paper. Label the title, x-axis and y-axis. Get the best fit scale for your graph. In the classroom, observe any character that you can manipulate and form a tabular table. From the table, sketch a graph to represent the discrete values in the uncontinuous variation. In your opinion, which variation is easily modified/influenced from the environmental factors?

2.

3.

4.

SELF-CHECK 6.5
Explain all the factors responsible for variation in a population.

6.5

GENETIC DISORDERS

According to the US National Human Genome Institute, most diseases have some sort of genetic factor. These disorders can be caused by a mutation in a single gene, multiple gene mutations, combined gene mutation and environmental factors, or by chromosome mutation or damage. Gene mutations have been identified as the cause of several disorders including sickle cell anemia, cystic fibrosis, Tay-Sachs disease, Huntington disease, haemophilia and some cancers. Thus, a genetic disorder is a disease that is caused by an abnormality in an individual's DNA. You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime.

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There are three types of genetic disorders: (a) (b) (c) Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example; Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Down syndrome is a chromosomal disorder; and Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment also play a role. Colon cancer is an example.

Down Syndrome
Let us now take a look at one example of these genetic disorders Down syndrome. Down syndrome is a developmental disorder caused by an extra copy of chromosome 21 (which is why the disorder is also called trisomy 21). Having an extra copy of this chromosome means that individuals have three copies of each of its genes instead of two, making it difficult for cells to properly control how much protein is made. Producing too much or too little protein can have serious consequences. Genes on chromosome 21 that specifically contribute to the various symptoms of Down syndrome are now being identified. People with Down syndrome have very distinct facial features: a flat face, a small broad nose, abnormally shaped ears, a large tongue and upward slanting eyes with small folds of skin in the corners (see Figure 6.9). People with Down syndrome have an increased risk of developing a number of medically significant problems respiratory infections, gastrointestinal tract obstruction (blocked digestive tract), leukaemia, heart defects, hearing loss, hypothyroidism and various eye abnormalities. They also exhibit moderate to severe mental retardation; children with Down syndrome usually develop more slowly than their peers, and have trouble learning to walk, talk and take care of themselves. Due to these medical problems, most people with Down syndrome have a decreased life expectancy; about half live to be 50 years of age.

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Figure 6.9: Children with Down syndrome Source: http://www.pyroenergen.com

ACTIVITY 6.8
Find out what happens to the genes that could result in the following diseases: Sickle cell Haemophilia Tay-Sachs disease Anemia Cystic fibrosis Huntington's disease

6.6

GENETIC ENGINEERING: STEM CELL RESEARCH AND DNA FINGERPRINTING

Genetic engineering (GE) is the modification of an organisms genetic composition by artificial means, often involving the transfer of specific traits, or genes, from one organism into a plant or animal of an entirely different species.

When gene transfer occurs, the resulting organism is called transgenic or a GMO (genetically modified organism). In short, it can be defined as genetic manipulation. The process is synonymous to a few terms such as recombinant DNA technology and gene splicing.

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Figure 6.10 illustrates a simple representation of the DNA recombinant technology. In short, it shows that fragment of DNA is being inserted into the bacterial plasmid, with the aid of restriction and ligase enzymes.

Figure 6.10: Simple DNA Recombinant Technology Source: http://bio-chemistinfo.blogspot.com

In this section, we are going to look at stem cell research and DNA fingerprinting as examples of genetic engineering.

6.6.1

Stem Cell Research

Stem cells are undifferentiated cells that have the potential to become any type of cell in the body. One of the main characteristics of stem cells is their ability to self-renew or multiply while maintaining the potential to develop into other types of cells (see Figure 6.11). Stem cells can become cells of the blood, heart, bones, skin, muscles, brain, etc.

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Figure 6.11: Stem cells Source: http://www.news-medical.net

In mammals, there are two broad types of stem cells embryonic stem cells, which are isolated from the inner cell mass of blastocysts, and adult stem cells, which are found in various tissues. Stem cells may also be used for screening new drugs and toxins and understanding birth defects without subjecting human volunteers to the toxins and drugs. In 1968, doctors performed the first successful bone marrow transplant. In a bone marrow transplant, the patient's bone marrow stem cells are replaced with those from a healthy, matching donor. To do this, all of the patient's existing bone marrow and abnormal leukocytes are first killed using a combination of chemotherapy and radiation. Next, a sample of donor bone marrow containing healthy stem cells is introduced into the patient's bloodstream. If the transplant is successful, the stem cells will migrate into the patient's bone marrow and begin producing new, healthy leukocytes to replace the abnormal cells. Stem cell research is improving by leaps and bounds. These may soon become the basis for treating diseases such as Parkinson's disease, diabetes, heart failure, cerebral palsy, heart disease and host of other chronic ailments.

ACTIVITY 6.9

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ACTIVITY 6.9
Visit http://learn.genetics.utah.edu/ Explore online activities, labs, experiments and workshops about genetics.

6.6.2

DNA Fingerprinting

DNA fingerprinting is a way of identifying a specific individual, rather than simply identifying a species or some particular trait. It is also known as genetic fingerprinting or DNA profiling. As a technology, it has been around since at least 1985, when it was announced by its inventor, Sir Alec John Jeffreys. Like the fingerprints that came into use by detectives and police labs during the 1930s, each person has a unique DNA fingerprint (see Figure 6.12). Unlike a conventional fingerprint that occurs only on the fingertips and can be altered by surgery, a DNA fingerprint is the same for every cell, tissue and organ of a person. It cannot be altered by any known treatment. Consequently, DNA fingerprinting is rapidly becoming the primary method for identifying and distinguishing among individual human beings.

Figure 6.12: Conventional and DNA fingerprint Source: http://www.biotech.iastate.edu

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Uses of DNA Fingerprints DNA fingerprints are useful in several different areas. Some are as follows: (a) Diagnosis of inherited disorders DNA fingerprinting is used to diagnose inherited disorders in both prenatal and newborn babies. Early detection of such disorders enables the medical staff to prepare themselves and the parents for proper treatment of the child. In some programmes, genetic counsellors use DNA fingerprint information to help prospective parents understand the risk of having an affected child. Developing cures for inherited disorders By studying the DNA fingerprints of relatives who have a history of some particular disorder, or by comparing large groups of people with and without the disorder, it is possible to identify DNA patterns associated with the disease in question. This work is a necessary first step in designing an eventual genetic cure for these disorders. Forensic or criminal Police labs have begun to use DNA fingerprints to link suspects to biological evidence such as blood or semen stains, hair or items of clothing-found at the scene of a crime. Another important use of DNA fingerprints in the court system is to establish paternity in custody and child support litigation. Personal identification Since every organ or tissue of an individual contains the same DNA fingerprint, it can be used to identify casualties or persons missing in action. The DNA method is far superior to the dental records, and blood typing strategies currently in use.

(b)

(c)

(d)

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SELF-CHECK 6.6
Which of the following statements are true? 1. 2. 3. 4. 5. 6. 7. DNA recombinant is another name for genetic engineering. The DNA is manipulated in genetic engineering. Red blood cells, nerve cells and muscle cells are examples of stem cells that can be found in adults. Stem cells have the ability to self-renew or multiply while maintaining the potential to develop into other types of cells. Stem cells can be used to treat many diseases. A DNA fingerprint is the same for every cell, tissue and organ of a person. DNA fingerprint can be used to diagnose inherited genetic disorders.

There are two types of cell division mitosis and meiosis. There are similarities and differences between the two types of cell division. Gene is the basic unit of inheritance. Different types of genes are located on a chromosome. Different alleles of the same gene are located on the same spot of homologous chromosome. Chromosomes can be found in the nucleus of a cell. Genes are made-up of deoxyribonucleic acid (DNA). Mendels first law and second law are focused on the segregation and independent assortment of genetic factors respectively. a

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Modifications on Mendelian ratios open up our understanding about heredity in living things and it is the key to understanding our diversity. Variation is very crucial in enriching genetic diversity. Variation can be inherited or influence by environment or both. There are two types of variation discrete and continuous variation. Mutation can cause genetic disorders. There are gene as well as chromosome mutation. Genetic engineering is the modification of an organisms genetic composition by artificial means, often involving the transfer of specific traits, or genes, from one organism into a plant or animal of an entirely different species. Stem cells are undifferentiated cells that have the potential to become any type of cell in the body. Stem cell research can become the basis for treating diseases and may also be used for screening new drugs and toxins and understanding birth defects. DNA fingerprinting is a way of identifying a specific individual, rather than simply identifying a species or some particular trait. DNA fingerprints are useful in several different areas.

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Allele Anaphase Chiasmata Chloroplast DNA Chromatid Chromosome Codominance Continuous variation Deoxyribonucleic acid (DNA) Diploid Discontinuous variation DNA fingerprinting Dominant Epistasis

Gene Gene manipulation Genetic engineering Heterozygous dominant Homologous chromosomes Homozygous dominant Homozygous recessive Interphase Meiosis Mendelian law Metephase Mitosis Prophase

Chen, P. (1992). Biologi STPM jilid 1. Kuala Lumpur: Penerbit Fajar Bakti Sdn Bhd. Genetic Science Learning Center. (n.d.). Genetic Disorders. Retrieved from http://learn.genetics.utah.edu/content/disorders/whataregd. Lee, S. C. & Liew, S. L. (2000). Biologi STPM edisi kedua. Kuala Lumpur: Penerbit Fajar Bakti Sdn Bhd.

Mitosis tables. (n.d.). Retrieved from curriculum.calstatela.edu.

Roberts, M. B. V. (1986). Biology A functional approach. Surrey: Thomas Neson & Sons Ltd.