human genetics. i. mutations = changes in dna a. mutations increase the amount of variation among...
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Human GeneticsHuman Genetics
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I. Mutations = changes in DNAA. Mutations increase the amount of
variation among offspring.
A. Deletion: removal of a chromosomal segmentB. Duplication: repeats a chromosomal segmentC. Inversion: segment reversal in a chromosomeD. Translocation: movement of a chromosomal segment to
another non-homologous chromosome
II. Chromosome Mutations
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III. KaryotypesA. Shows chromosomes
paired by size, shape, and appearance in metaphase.
B. Chorionic villi sampling, and amniocentesis can be used to diagnose chromosomal abnormalities.
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IV. Changing Chromosome NumberA. Nondisjunction =
failure of chromosomes to separate during meiosis; addition or loss of a chromosome
B. Monosomy missing 1 chromosome (45)
C. Trisomy have an extra chromosome (47)
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V. Nondisjunction AbnormalitiesA. Many trisomies and nearly all monosomies are
fatal.B. XYY males (Jacob syndrome)- tall, acne, not
overly aggressiveC. XO females (Turner syndrome)- short, webbed
neck, no puberty.
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D. Klinefelter Syndrome = XXY; male, some retardation, low fertility (rare cases (48,XXXY) or (49,XXXXY)
E. Triple X Female (XXX) – no physical abnormalitiesF. Fragile X Syndrome – X chromosome broken; males;
hyperactive or autistic, delayed speechG. Down Syndrome = extra 21st chromosome; mental
retardation, fold of skin above eyes, weak muscles
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END NOTES TODAY
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VI. Sex DeterminationA. Thomas Hunt Morgan
1. Experiments with Drosophila (fruit fly)
2. Sex Chromosomes Determine Gender
a. Female are XX b. Male are XY
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D. Sex chromosomes also carry genes for traits unrelated to gender.
E. Recessive alleles on X expressed in males more often.
F. Carrier: Someone who
is heterozygous for a genetic disease or trait.
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G. Example of Sex Link Traits1. Color Blindness
2. Hemophilia – blood doesn’t clot
x x = Healthy x y = Healthy
x x = Healthy x y = hemophilia
X X = hemophilia
H h
H H H
h
h h
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VII. Human Genetic TraitsA. Single Allele Traits
1. Sickle Cell Anemiaa. Sickle shaped red cells
b. Clump & block arteries
c. AA= healthy cell
AA’= both kinds; protected from
malaria
A’A’= sickle cells
B. Other examples 1. Tays-Sacs 2. Cystic Fibrosis
3. Phenylketonuria (PKU)
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C. Dominant Allele Diseases 1. Huntington’s Disease
a. Brain cells degenerate; no muscle control;
death
b. Occurs at 30 – 40 years old
Hh hh
Hh hh
H h
h
h
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D. Polygenic Traits are traits that have 2 or more genes controlling it.
1.Skin color - 4-7 genes with additive effect of amount of melanin
2. Eye Color – blue (light melanin), brown (lot of melanin)
3. Height
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E. Sex Influenced Traits are influenced by sex hormones
1. B = Baldness; dominant in males and recessive in females
2. BB = bald females and males
3. BB” – female will not lose her hair
4. BB” – male will lose hair
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VIII. Studying Humans
A. Population Sampling = select a number to represent whole population
B. Twin Studies – environment vs. genetics
C. Pedigree Studies – family chart of traits
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D. DNA fingerprinting = study thepatterns of bands obtained from electrophoresis
1. Gel electrophoresis – process to separate DNA fragments by size of charge
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E. Pedigrees are charts or “family trees” that track which members of a family have a particular trait.
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IF THEY MATED…
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Lindsay Lohan and Jared Leto
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Nichole Kidman and Keith Urban
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Jim Carrey and Jenny McCarthy
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