LECTURE 11: GENETIC AND INHERITANCE

Mendels Legacy Genetics is everywhere these days and it will continue as a dominant force in biology and society for decades to come. Wouldnt it be nice if people understood it better?
KRT-2008

BASIC GENETICS AND INHERITANCE

1. Introduction 2. Basic Genetics & Inheritance
Dominant & Recessive Homozygous Heterozygous

Gene Chromosome Loci Allele Features Gametes Zygote Diploid

3. 4.

Review Inheritance
Principle of Inheritance A Punnett square

5. 6.

Genetic Problems Genetic engineering

KRT-2008

I. INTRODUCTION
Basic Definition
Genetics study of inheritance of characteristics Genome complete set of genetic instructions Genomics field in which the body is studied in terms of multiple, interacting genes

KRT-2008

 What is genetic inheritance?

It is the genes (genetic codes) parents pass on to their offspring (=keturunan). Why is this important? It is important, for examples ,for Paint Horse breeders to understand genetic inheritance so they can breed for certain coat patterns, possibly raising the value of their horses. What does a gene do? Genes transfer the genetic information from a parent to its offspring, determining the appearance of the offspring including the coat color and pattern.
KRT-2008

II. BASIC GENETICS AND INHERITANCE

KRT-2008

What are Genes?

Genes are the tiny, basic units of inheritance found in DNA = are short regions of the DNA that hold the information needed to build and maintain the body. Genes have fixed locations: each gene is in a particular place on a particular chromosome

KRT-2008

What are Genes?

Genes determine color, size, and make-up for every living species. Each equine species receives half of their genes from their sire (father) and half from their dam (mother). Physically, genes are linked together like a strand of pearls to form a chromosome.

KRT-2008

What are Chromosomes?

Chromosomes are long pieces of DNA with supporting proteins, and made up of genes. Every Paint Horse has 64 chromosomes. Each chromosome was initially created through fertilization, where genetic information from the sire (father) was united with genetic information from the dam (mother). Loci and Alleles are also found on chromosomes.
KRT-2008

CHROMOSOME

The instructions that tell cells what we look like are carried in these. There are 23 pairs of them in a normal human cell.

GENES
These are the units which make up chromosomes that are responsible for inheritance of specific characteristics
KRT-2008

GEN ES

Human Chromosomes
We have 46 chromosomes, or 23 pairs. 44 of them are called autosomes and are numbered 1 through 22. Chromosome 1 is the longest, 22 is the shortest. The other 2 chromosomes are the sex chromosomes: the X chromosome and the Y chromosome. Males have and X and a Y; XY Females have 2 Xs; XX.

KRT-2008

10

Chromosomes and Genes Come in Pairs

23 pairs of chromosomes pairs 1-22 are autosomes pair 23 are sex chromosomes

Normal karyotype

KRT-2008

11

11

What are Loci?

Loci

The different points or markers along a chromosome. Loci are like street signs in a busy city, allowing us to find our way along a complex chromosome. At a specific locus, scientists can locate certain genes. These genes appear at that locus for every individual of that species. At one locus therenumbered. Alleles Loci are can be two This

depicts a chromosome half.

KRT-2008

12

What are Alleles?

Alleles: The different versions of genes or alternative
versions of genes that account for variations in inherited characteristics (variant forms of the same gene). Two alleles are found at each loci on a chromosome.

For each character, an organism inherits 2 alleles, one from each parent If the two alleles differ, then one, the dominant allele, is fully expressed in the organisms appearance; the other, the recessive allele, has no noticeable effect on the organisms appearance
KRT-2008

13

Genes, Alleles, and Chromosomes

KRT-2008

14

 For example
Consider your eye color You have a loci on a chromosome for eye color. At that loci there are two allelesone from your mother and one from your father. The dominant of the two alleles is the eye color that you display. This is your phenotype (the eye color seen). The genetic classification (what we cant see but what is on the loci) is called the genotype.

The alleles for each character segregate (separate) during gamete production (meiosis). Mendels Law of Segregation
KRT-2008

15

Mendelian genetics

Character (heritable feature, i.e., fur color) Trait (variant for a character, i.e., brown) True-bred (all offspring of same variety) Hybridization (crossing of 2 different truebreds) P generation (parents) F1 generation (first filial generation)
KRT-2008

16

A Mendelian Genetic Primer

Genes come in pairs that separate in the formation of gametes. The members of the pair may be identical (homozygous) or non-identical (heterozygous). Each form of a particular gene is an allele. Only two alleles of a given gene are possible in an individual although many alleles of a gene are possible within a population. One allele is dominant over another (or so Mendel believed).

KRT-2008

17

FEATURES
things like eye colour, skin colour and hair colour which are controlled by genes.

GAMETES

Sperm and egg cells are both this type of cell. Contain half the amount of DNA of normal diploid cells

KRT-2008

18

ZYGOTE
When a sperm and egg cell fuse together, they produce this.

DIPLOID
We use this word to describe cells which contain the full complement of genetic material. In humans this would be 46 chromosomes (23 pairs)
KRT-2008

19

What is Dominant or Recessive Inheritance?

Simple Dominance explains how genes are expressed. 1. Dominant allele masks the phenotype of the recessive allele 2. Recessive allele is expressed only if in a double dose (homozygous) 3. In Simple Dominance, two genes (one received from each parent) are passed on to the offspring. The parents genotype determines the genotypic possibilities of the offspring. 4. In Simple Dominance, one gene is dominant over the other. The characteristic for which this gene codes is physically displayed. 5. Scientists identify this dominant gene with a capital letter.
KRT-2008

20

What is Simple Dominance?

6.

7. 8.

The recessive form of the gene is submissive to the dominant form and will not be physically displayed. However, it will always be found in the genotype and could be passed on to this individuals offspring. Scientists identify this recessive gene with a lower-case letter. Because two genes are passed to an offspring, several pairing possibilities can occur. Homozygous or heterozygous pairing can occur in the offsprings genotype.

KRT-2008

21

What is Homozygous?

Homozygous
1. 2. 3.

4.

Homo means same. Homozygous identical alleles A homozygous genotype is two of the same alleles (two dominant or two recessive) at one locus. Consider the Black or Sorrel (=merah bata) base coat colors. E codes for Black and e codes for Sorrel. E has simple dominance over e.
KRT-2008

22

What is Homozygous Pairing?

Homozygous 4. A homozygous dominant pair for Black base coat is EE. If one dominant E gene is in the genotype, the Black coat is expressed. This is an example of simple dominance because only one dominant E results in a Black coat. 5. A homozygous recessive pair for a Sorrel coat is ee. Because e is recessive, the only way a Sorrel coat will be expressed is if you have a homozygous recessive genotype of ee.
KRT-2008

23

What is Heterozygous?
Heterozygous

Hetero means different or other. heterozygous different alleles A heterozygous genotype is two different alleles at one locus. One allele of the pair is dominant, while the other is recessive. For example, what color would a foal with the genotype Ee be? Remember, E has simple dominance over e, and E codes for Black where e codes for Sorrel.

The coat color will be Black because E is dominant.

KRT-2008

24

III. REVIEW

KRT-2008

25

Lets Review

1.

2.

What are genes? Answer: Genes are tiny units of inheritance found in DNA that code for the make-up of an individual. What makes up a chromosome? Answer: Genes make up chromosomes, loci are found on chromosomes and alleles are found at loci.

KRT-2008

26

Lets Review

3.

What is the title given to specific parts along a chromosome where two alleles are found?
Answer: Loci

4.

Why are there two alleles at each loci?

Answer: Two alleles are at each loci because the offspring receives one from its mother and one from its father.

5.

What is genotype?
Answer: The genotype is the genetic material that we cant see expressed on the outside of an individual, such as a recessive allele.
KRT-2008

27

Lets Review
6.

7.

8.

What is phenotype? Answer: The phenotype is the physical appearance of an individual, a characteristic that we see, such as that determined by a dominant allele. In simple dominance, what allele will be expressed? Answer: The dominant allele is expressed in simple dominance. If I have a heterozygous pair of alleles, what genotype do I have? Answer: I have one dominant allele and one recessive allele.
KRT-2008

28

IV. INHERITANCE

a. PRINCIPLES OF INHERITANCE

KRT-2008

29

Mendels Principles of Inheritance

Inherited traits are transmitted by genes which occur in alternate forms called alleles Principle of Dominance - when 2 forms of the same gene are present, the dominant allele is expressed Principle of Segregation - in meiosis two alleles separate so that each gamete receives only one form of the gene Principle of Independent Assortment - each trait is inherited independent of other traits (chance)

KRT-2008

30

Gregor Mendel

Gregor Mendel (18221884) Belief at the time was that the traits of parents were fused or blended, no real idea of how that happened.

KRT-2008

31

Gregor Mendel

Mendel studied the garden pea

1.

2.

3.

The pea was a good choice because there were a large number of true breeding varieties, short generation time, easy to grow and perfect flowers Mendel observed variations in the garden pea as to the height, flower color, seed coat color, and seed shape. In each case there were distinct contrasting forms. Mendel bred his plants over many generations and counted the variations in each successive generation.

KRT-2008

32

Mendels Model Organism

The Garden Pea

KRT-2008

33

Gregor Mendel

4.

5.

6.

He focused on 1 or 2 traits in each experiment. After collecting all the data he analyzed the results and derived his conclusions. He crossed plants with different traits, and learned that the offspring showed the dominant trait. Most often but that expressions of the recessive traits showed up in a consistent ratio. It was Mendels records that showed him the way. Mendel found that inheritance of traits was not due to blending but instead the passing of specific traits, or units of inheritance, what we now cal led genes
KRT-2008

34

Gregor Mendel

7.

8.

9.

Mendel crossed a tall growing variety of pea with a short growing variety. If the fusing theory was correct you should get an intermediate height plant But instead they resembled the tall parent, but it this generation were allowed to breed there would be throwbacks to the short variety at a ratio of 3:1 (3 tall for every one short) No matter what trait he selected for the second generation always contained individuals of both traits always on a 3:1 ratio.

KRT-2008

35

Gregor Mendel

10.

11.

12.

Mendel predicted the discovery of genes (specific units of inheritance) but also the existence of Alleles, the pairing of two alternate forms of the gene. He deduced that during the formation of gametes (haplod reproductive cells), the two alleles separate from one another so that each gamete has only one of the alleles. During sexual reproduction, the allelic pairs are restored when the sperm and egg combine.

KRT-2008

36

Gregor Mendel

13.

14.

Today we know a gene is a portion of DNA strandevery gene contains the information necessary to manufacture a special polypeptide or protein. Genes are the unit of DNA which contains the information code for a specific amino acid.
KRT-2008

37

The Reality of Round and Wrinkled Two Alternative Traits of the Seed Shape Character

Note that each of seed is a new individual of a different generation seeds are not of the same generation as the plant that bears them.

KRT-2008

38

Mendels Monohybrid Cross P to F1

A Punnett square, something well cover in a moment.

KRT-2008

39

Mendel Continued crosses to the F2 (the grandchildren)

What was learned? The green trait was not lost or altered, even though it disappeared in the F1. One trait is dominant to the other in its expression. The reappearance of the recessive trait in of the F2 suggests genes come in pairs that separate in the formation of sex cells.

KRT-2008

40

Monohybrid Crosses and the Principle of Segregation

A cross between individuals differing in single character is a monohybrid cross. The analysis of monohybrid crosses allowed Mendel to deduce the Principle of Segregation .... Genes come in pairs that separate in the formation of sex cells (and these sex cells unite randomly at fertilization).
KRT-2008

41

Principle of Segregation

Segregation

The principle of segregation is explained by the behavior of homologous chromosomes at meiosis.

KRT-2008

42

IV b. A Punnett Square
A Punnett Square is a Handy Way of Analyzing Crosses

In a Punnett square for a monohybrid cross, the Principle of Segregation is applied.

KRT-2008

43

Different Genotypes Can Produce the Same Phenotype

1 1

3 2

KRT-2008

44

Consistency is Good

No matter what the character, Mendel observed a 3:1 ratio of characters in the F2.
Characters investigated by Mendel
KRT-2008

45

Monohybrid Crosses Yielded Consistent Results

Therefore, the Principle of Segregation indeed is a general principle of genetics.

KRT-2008

46

What Works for Peas Also Works for Humans

An albino woman

In the cross Aa x Aa, where A is a dominant allele for wild type (standard) pigmentation and a is a recessive allele for no pigmentation (albinism), of offspring will be wild type and will be albino.
KRT-2008

47

Why did Mendel conclude that the inheritance of one trait is independent of another? The alternative and incorrect hypothesis: dependent inheritance.

Because its the only way to explain the pattern of inheritance.

KRT-2008

48

The Punnett Square for a Dihybrid Cross

Note that were simultaneously applying the Principles of Segregations and Independent Assortment.
KRT-2008

49

The Independent Alignment of Different Pairs of Homologous Chromosomes At Meiosis Accounts for the Principle of Independent Assortment
The alignment of one pair of homologs is independent of any other. Principle of Independent Assortment: The assortment of one pair of genes into gametes is independent of the assortment of another pair of genes.
KRT-2008

50

What works for peas also works for humans

Consider a cross between parents heterozygous for both deafness and albinism. This is the same 9:3:3:1 ratio seen for Mendels cross involving pea color and shape.

KRT-2008

51

Some Alleles are related through incomplete Dominance

Dominance relationships may differ, but the Principle of Segregation remains the same.

KRT-2008

52

Pleiotropy When One Allele Influences Many Traits

KRT-2008

53

Pleiotropy in Action

Anemia, infections, weakness, impaired growth, liver and spleen failure, death.

Traits (phenotypes) associated with the sickle cell allele.

KRT-2008

54

Polygenic Inheritance When a Single Trait is Influenced by Many Genes

Height is a polygenic trait

KRT-2008

55

Multiple Alleles
Many genes are present in 3 or more versions (alleles) this is known as multiple alleles. The human ABO blood group is determined by three alleles (IA, IB, and io) of a single gene.

KRT-2008

56

Codominance The human ABO blood group illustrates another genetic phenomenon codominance.
The AB phenotype (genotype IA IB) is an example of codominance

Codominance occurs when the phenotype associated with each allele is expressed in the heterozygote.

KRT-2008

57

V. GENETIC PROBLEMS

KRT-2008

58

 We have 46 chromosomes (23 pairs), and 44 of them are called autosomes and are numbered 1 through 22

Human Chromosomes

Chromosome 1 is the longest, 22 is the shortest. The other 2 chromosomes are the sex chromosomes: the X chromosome and the Y chromosome.

Males have and X and a Y; females have 2 Xs: XY vs. XX.

KRT-2008

59

1. Chromosomal Disorders

KRT-2008

60

Chromosomal Disorders
Polyploidy
extra set of chromosomes most embryos die

Aneuploidy
missing a chromosome or having an extra chromosome results from nondisjunction trisomy is the condition of having an extra chromosome monosomy is the condition of missing a chromosome

Euploid is a normal chromosome number

KRT-2008

61

Causes of Aneuploidy

KRT-2008

62

Prenatal Tests

KRT-2008

63

Prenatal Tests

KRT-2008

64

2. Colorblindness

KRT-2008

65

Colorblindness

We have 3 color receptors in the retinas of our eyes. They respond best to red, green, and blue light. Each receptor is made by a gene. The blue receptor is on an autosome, while the red and green receptors are on the X chromosome (sex-linked).
KRT-2008

66

Colorblindness

Most colorblind people are males, who have mutated, inactive versions of either the red or the green (sometimes both) color receptors. Most females with a mutant receptor gene are heterozygous: the normal version of the receptor genes gives them normal color vision.
KRT-2008

67

Inheritance of Colorblindness

A heterozygous female has normal color vision. Sons get their only X from their mother. So, of the sons of a heterozygous mother are colorblind, and are normal.

A colorblind male will give his X to his daughters only. If the mother is homozygous normal, all of the children will be normal.

However, the daughters will heterozygous carriers of the trait, and of their sons will be colorblind.

KRT-2008

68

3. Sex Determination

KRT-2008

69

Sex Determination

The basic rule: if the Y chromosome is present, the person is male. If absent, the person is female. In meiosis, the X and Y chromosomes separate and go into different sperm cells: the sperm carry the X and the other half carry the Y All eggs have one of the mothers X chromosomes, so when they are fertilized of the zygotes are XX (female), and are XY (male) The Y chromosome has the main sex-determining gene on it, called SRY.
KRT-2008

70

Sex Determination

About 4 weeks after fertilization, an embryo that contains the SRY gene develops testes, the primary male sex organ The testes secrete the hormone testosterone that signals the other cells of the embryo to develop in the male pattern. If the embryo does not have the SRY gene, it develops ovaries instead, which secrete estrogen and causes development in the female pattern.

KRT-2008

71

Sex Determination
An egg contributes an X chromosome A sperm contributes either an X or a Y chromosome

A gene on the Y chromosome (SRY) determines sex

KRT-2008

72

Sex Chromosomes and Their Genes

X chromosome
has over 1,500 genes most genes on the X chromosome do not have corresponding alleles on the Y chromosome

Y chromosome has only 231 protein-encoding genes

some genes are unique only to the Y chromosome

Sex-linked Genes

Y-linked genes are transmitted only from father to son X-linked genes are transmitted from father to daughter or from mother to daughter or son Hemophilia A is a sex-linked disorder
KRT-2008

73

73

Sex Determination

The basic rule:

if the Y chromosome is present, the person is male If the Y chromosome is absent, the person is female

In meiosis, the X and Y chromosomes separate and go into different sperm cells:
the sperm carry the X and the other half carry the Y.

All eggs have one of the mothers X chromosomes, so when they are fertilized, of the zygotes are XX (female), and are XY (male).
KRT-2008

74

Sex Determination

The Y chromosome has the main sexdetermining gene on it, called SRY. About 4 weeks after fertilization, an embryo that contains the SRY gene develops testes, the primary male sex organ. The testes secrete the hormone testosterone. Testosterone signals the other cells of the embryo to develop in the male pattern. If the embryo does not have the SRY gene, it develops ovaries instead, which secrete estrogen and causes development in the female pattern.
KRT-2008

75

A few oddities

It is possible to be XY and female through two ways i.e. 1. the SRY gene can be inactivated by a mutation. If SRY doesnt work, testes dont develop and the embryo develops as a normal female. 2. In a condition called androgen insensitivity, the person is XY with a functional SRY gene, but her cells lack the testosterone receptor protein, so the cells dont ever get the message that the testosterone is sending. Testes develop in the abdominal cavity (=rongga perut), and no ovaries, fallopian tubes, or uterus develop. At puberty, the internal testes secrete testosterone, which gets converted into estrogen and the body develops as a normal (but sterile) adult female.
KRT-2008

76

4. Hermaphrodites

KRT-2008

77

In some cases, androgen insensitivity is only partial: the cells respond a little bit to testosterone produced by the testes. The embryo develops with ambiguous genitalia, neither completely male not completely female. Such a person is sometimes called a hermaphrodite. Another condition, congenital adrenal dysplasia, causes the adrenal glands to produce an abnormally large amount of testosterone in a female embryo This can also cause development of ambiguous genitalia, a hermaphrodite. Another rare condition: a chimera occurs when two separate embryos fuse together. This can result in a person with some XX cells and some XY cells. Such a person can have both testes and ovaries, a true hermaphrodite. This condition is extremely rare: more people say they have it than actually do
KRT-2008

Hermaphrodites

78

5. Down syndrome

KRT-2008

79

Chromosome Variations Changes in number and structure are possible: first look at number variations. Aneuploidy: having an extra or missing chromosome is fairly common in sperm and eggs. Nondisjunction in meiosis causes chromosomes to not separate equally into the gametes. The rate of non-disjunction in males is constant: 1-2% of sperm have an extra of missing chromosome. But in females, the rate increases marked with age. This is illustrated by the frequency of Down syndrome births at different ages of mother. Down syndrome is the most frequent result of non-disjunction.
KRT-2008

80

Chromosome Number Variations

Except for the X and Y, humans dont survive with only 1 copy of any chromosome. Also, 3 copies is lethal in most cases. Aneuploidy is a major cause of spontaneous abortion in early pregnancy. Down Syndrome is the most common human aneuploidy. It is also called trisomy-21, meaning 3 copies of chromosome number 21.

People with Downs have a characteristic appearance: flattened face, turned up nose, epicanthal folds at the outer corners of the eyes. In most cases the diagnosis is made immediately at birth. Heart defects, protruding tongue, and mental retardation are also found in most people with Downs. Occurs about 1 in 1000 births. There are also translocational and mosaic forms of Down syndrome
KRT-2008

81

Chromosome Number Variations

Translocational involves a chromosome structure change (2 chromosomes get hooked together) and is inherited. With translocational Downs, if one child in a family has it, others are likely to also get it. Occurs in about 5% of Downs cases. Mosaic Downs means having some cells with trisomy 21 and other cells normal. The persons physical appearance and mental condition depends on exactly which cells are which. About 3% of all Down syndrome cases.

KRT-2008

82

Chromosome Number Variations

KRT-2008

83

Some Sex Chromosome Aneuploidies

Non-disjunction can also result in a person with 2 Xs and a Y: 47,XXY. This is called Klinefelter Syndrome. The Y chromosome makes a person with Klinefelters male: possessing testes. Symptoms: female body hair pattern, breast development, sterile, can be some developmental delay or retardation, especially for verbal skills.

Often not diagnosed, or diagnosed only accidentally. Most symptoms are helped by testosterone treatment.
KRT-2008

84

Turner Syndrome
Also called XO, because people with Turners have only 1 X chromosome: 45, X. No Y means Turners people are female. However, no ovaries develop, so they dont undergo the body changes of puberty and they are sterile. Hormone treatment cures all but the sterility. Other symptoms: short stature, webbed skin and low hairline at the neck, some oddities of spatial perception. Not retarded.

KRT-2008

85

Other Number Variations

Triplo-X, having 3 X chromosomes. No Y chromosome means female. Many with this syndrome are undiagnosed because they have no symptoms. Some have slight social and developmental problems, especially languagerelated. Occasional fertility problems, but many have normal fertility. Not well studied. XYY: having 2 Y chromosomes plus an X. Male because they have a Y. Many are never diagnosed due to a lack of symptoms. Tend to be taller, more physically active, slightly retarded, prone to acne.
KRT-2008

86

Chromosome Structure Variations

Chromosomes can be broken by Xrays and by certain chemicals. The broken ends spontaneously rejoin, but if there are multiple breaks, the ends join at random. This leads to alterations in chromosome structure. Problems with structural changes: breaking the chromosome often means breaking a gene. Since most genes are necessary for life, many chromosome breaks are lethal or cause serious defects. Also, chromosomes with structural variations often have trouble going through meiosis, giving embryos with missing or extra large regions of the chromosomes. This condition is aneuploidy, just like the chromosome number variations, and it is often lethal.

KRT-2008

87

Chromosome Structure Variations The major categories: duplication (an extra copy of a region of chromosome), deletion (missing a region of chromosome), inversion (part of the chromosome is inserted backwards, and translocation (two different chromosomes switch pieces).
There are lots of ways chromosomes can change structure, so the syndromes are not as well defined as with number variations. Cri-du-chat syndrome comes from a deletion of one end of chromosome 5, so the person only has 1 copy of all the genes on this end of the chromosome.
KRT-2008

88

Structure Variation Examples The name means cats cry, because their cry sounds vaguely like a cats meow. People with this condition are severely retarded, as well as having a variety of physical problems. Translocational Down syndrome is caused by most of chromosome 21 becoming joined with chromosome 14. Some children of a person with this translocation will inherit the translocation as well as 2 normal chromosome 21s. This results in trisomy-21: having 3 copies of the chromosome, which gives Down syndrome.
KRT-2008

89

Sex-linked Genes

Genes on the X chromosome are called sex-linked, because they expressed more often in males than in females There are very few genes on the Y chromosome. Since males only have one X chromosome, all genes on it, whether dominant or recessive, are expressed. In contrast, a mutant gene on an X chromosome in a female is usually covered up by the normal allele on the other X. Most mutations are recessive. So, most people with sex-linked genetic conditions are male. Another fact about sex-linked genes. Males produce their sperm with their X chromosome, and half with their Y chromosome. The X-bearing sperm lead to daughters and the Y-bearing sperm lead to sons. So, sons get their only X from their mothers, and the fathers X goes only to daughters. The Y chromosome is passed from father to son.
KRT-2008

90

6. Hemophilia

KRT-2008

91

Hemophilia

Hemophilia is a disease in which the blood does not clot when exposed to air. People with hemophilia can easily bleed to death from very minor wounds. Hemophilia is another sex-linked trait. Hemophilia is treated by injecting the proper clotting proteins, isolated from the blood of normal people. In the early 1980s, the blood supply was contaminated by HIV, the AIDS virus, and many hemophiliacs contracted AIDS at that time. Queen Victoria of England, who lived through most of the 1800s, apparently had a mutation on one of her X chromosomes that caused many of her descendants to have hemophilia. Most importantly, Alexis, son of the Czar of Russia had it, which contributed to the Russian Revolution and the rise of communism.
KRT-2008

92

Hemophilia

KRT-2008

93

Some traits appear to be specific to one sex, but are not sex-linked: their genes are not on the X chromosome. Such a trait is called sex-influenced. More specifically, a trait that is dominant in one sex but recessive in the other is a sex-influenced trait. The best human example is male pattern baldness. Baldness is dominant in males: heterozygotes and homozygotes both become bald

Sex-Influenced Traits

In females, baldness is recessive: only homozygotes (which are relatively rare) become bald. Also, females tend to lose hair more evenly than men, giving a sparse hair pattern rather than completely baldness. BUT: this may be an oversimplification.
KRT-2008

94

Gender Effects on Phenotype

Sex-limited trait affects a structure or function of the body that is present in only males or only females examples are beards(=jenggot) or growth of breasts (dada) Sex-influenced inheritance an allele is dominant in one sex and recessive in the other baldness is an example heterozygous males are bald but heterozygous females are not
KRT-2008

95

95

7. Gene Therapy

KRT-2008

96

Gene Therapy
group of experimental techniques that alter, replace, silence, or augment a genes function to improve, delay or prevent symptoms heritable gene therapy introduces the genetic change into a sperm, egg, or zygote changes passed to future generations common in plants; not done in humans nonheritable gene therapy targets only affected cells changes not passed to future generations
KRT-2008

97

97

Gene Therapy Targets

KRT-2008

98

98

VI. GENETIC ENGINEERING

KRT-2008

99

GENETIC ENGINEERING

The altering of the character of an organism by inserting genes from another organism
KRT-2008

100

KRT-2008

101

KRT-2008

102