Human Genetics

Phenotype: observed physical and functional traits Genotype: complete set of genes and alleles Alleles: Different versions of homologous genes ex. B and b

Human genetics
How are gametes made? How does chromosome behavior affect inheritance of traits?

 Somatic cells are diploid. Gametes are haploid, with only one set of chromosomes

SPERMATOGENESIS

OOGENESIS oogonium

spermatogonium

primary spermatocyte

primary oocyte

meiosis l secondary spermatocyte meiosis ll polar body secondary oocyte

spermatids polar bodies (will be degraded) egg

1st law - segregation of alleles

Cells contain 2 copies (alleles) of each gene Alleles separate during gamete formation (meiosis) gametes carry only one copy of each gene

Punnett squares show parental gametes and the genotypes of next generation

Homozygous: BB and bb Heterozygous: Bb

Possible genotypes and their probabilities

Figure 19.2

Law of Independent Assortment

During gamete formation, genes for different traits separate independently into gametes Why? random alignment of homologues at Meiosis I

Chromosome behavior accounts for Mendels principles

Figure 9.17
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Tetrad Crossing over A B

Gametes

Genes on the same chromosome tend to be inherited together = linked genes

Crossing over produces gametes with recombinant chromosomes

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VARIATIONS ON MENDELS PRINCIPLES

P GENERATION

Incomplete dominance
an offsprings phenotype is intermediate between the phenotypes of its parents

Red RR Gametes R r

White rr

F1 GENERATION

Pink Rr

1/

1/

Eggs
1/ 2

1/

R Red RR

1/

R
1/ 2

Sperm r

r Pink Rr

F2 GENERATION

Pink rR White rr

Figure 9.12A
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 Incomplete dominance in human hypercholesterolemia

GENOTYPES: HH Homozygous for ability to make LDL receptors Hh Heterozygous hh Homozygous for inability to make LDL receptors

PHENOTYPES: LDL

LDL receptor

Cell Normal
Figure 9.12B
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Mild disease

Severe disease

Many genes have more than two alleles in the population

Ex. three alleles for ABO blood type in humans IA, IB, i

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Polygenic traits - A single trait may be influenced by many genes Quantitative traits
skin color, height, eye color

Fraction of population

Skin pigmentation

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Genetic traits in humans can be tracked through family pedigrees The inheritance of many human traits follows Mendels principles and the rules of probability

Figure 9.8A
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 Family pedigrees are used to determine patterns of inheritance and individual genotypes
Dd Joshua Lambert Dd Abigail Linnell D_? John Eddy D_? Hepzibah Daggett

D_? Abigail Lambert

dd Jonathan Lambert

Dd Elizabeth Eddy

Dd

Dd

dd

Dd

Dd

Dd

dd

Female Male Deaf Figure 9.8B

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Hearing

Inherited Genetic Disorders

Most mutations usually involve recessive alleles
Phenylketonuria, PKU Tay-Sachs disease Cystic fibrosis
OFFSPRING PARENTS

Normal Dd

Normal Dd

D Eggs DD Normal d Dd Normal (carrier)

D Sperm

d Dd Normal (carrier)

dd Deaf

Figure 9.9A

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 A few are caused by dominant alleles

Examples: achondroplasia, Huntingtons disease

Figure 9.9B
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Sex-linked disorders affect mostly males

Most sex-linked human disorders are due to recessive alleles
Ex: hemophilia, red-green color blindness These traits appear mostly in males. Why?
Figure 9.23A

If a male receives a single X-linked recessive allele from his mother, he will have the disorder; while a female has to receive the allele from both parents to be affected
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Pedigree Chart: Inheritance Pattern for an X-linked Recessive Disease

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Figure 19.12

 A high incidence of hemophilia has plagued the royal families of Europe

Queen Victoria Alice

Albert

Louis

Alexandra

Czar Nicholas II of Russia

Alexis
Figure 9.23B
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Variations on Mendels Principles

Codominance, multiple alleles

Pleiotropy

Polygenic traits
Sex-linked genes

Environmental effects

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Accidents during meiosis can alter chromosome number Abnormal chromosome count is a result of nondisjunction
homologous pairs fail to separate during meiosis I
Nondisjunction in meiosis I

Normal meiosis II

Gametes n+1 n+1 n1 n1

Number of chromosomes
Figure 8.21A
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 Or sister chromatids fail to separate during meiosis II

Normal meiosis I

Nondisjunction in meiosis II

Gametes n+1 n1 n n
Figure 8.21B

Number of chromosomes
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 An extra chromosome 21 causes Down syndrome

The chance of having a Down syndrome child goes up with maternal age

Figure 8.20C
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Fetal testing can spot many inherited disorders early in pregnancy Karyotyping and biochemical tests of fetal cells can help people make reproductive decisions
Fetal cells can be obtained through amniocentesis
Amniotic fluid withdrawn Centrifugation Fluid Fetal cells
Biochemical tests

Amniotic fluid Fetus (14-20 weeks)

Placenta
Several weeks later Cell culture

Figure 9.10A

Uterus

Cervix

Karyotyping

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 Chorionic villus sampling is another procedure that obtains fetal cells for karyotyping

Fetus (10-12 weeks) Placenta Suction

Several hours later

Fetal cells (from chorionic villi)

Karyotyping

Chorionic villi

Some biochemical tests

Figure 9.10B

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 Examination of the fetus with ultrasound is another helpful technique

PGD - Preimplantation Genetic Diagnosis genetic analysis of embryos from in vitro fertilization (IVF) before inserting into womb Figure 9.10C, D
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Genes and Behavior

Mechanism
Product from gene-specific proteins
Proteins have specific functions leading to phenotypes: hormones, enzymes, transport, neurotransmitters

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