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Unit 4--Genetics Chapter 14 Human Heredity
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1) Autosomes –all the chromosomes except the sex chromosomes (in humans, there are 22 pair) 2) Sex chromosomes –The sex-determining chromosomes, the X & Y
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3) Karyotype –Pictures of paired human chromosomes arranged by size, used to identify abnormalities in fetuses –Cells from an amniotic fluid sample are cultured, stained & photographed
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4) Nondisjunction –Failure of chromosomes to separate –May cause a variety of birth defects, including trisomy 21 or Down syndrome
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Turner’s syndrome XX O Only 1 sex chromosome is present. Turner syndrome is associated with underdeveloped ovaries, short stature, webbed neck, and broad chest. Individuals are sterile, and lack expected secondary sexual characteristics. Mental retardation typically not evident.
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Klinefelter’s syndrome
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5) Pedigree5) Pedigree –Chart showing family history of a trait –Solid light = homozygous dominant, solid dark = homozygous recessive, half-circle = heterozygous
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6) Blood groups % of U.S. population
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Serum Universal recipient Universal donor
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7) Genetic disorders –Harmful effects produced by mutated genes, most are recessive and few are lethal –Example: sickle cell anemia
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Normal, with malarial resistance Same as parents ; normal, no resistance; sickle-cell anemia
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8) Sex-linked traits –A recessive gene on the X chromosome –Examples: color-blindness & hemophilia –Genotypes:Phenotypes: – X N Ynormal male – X n Ycolorblind – X N X N normal female – X N X n carrier female – X n X n colorblind
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normal vision “weak red” “weak green”
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Phenotypes??? Cross of carrier female & normal male XNXN XnXn XNXN Y XNXNXNXN XNXnXNXn XNYXNYXnYXnY
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XHXhXHXh X H X H X H X h X H Y X h Y Carrier Mom
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Royal Hemophilia
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Sex linkage & calico cats
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Polydactyly (multiple fingers and toes)
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