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Human Heredity
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1) Autosomes 2) Sex chromosomes
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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Who determines the Sex of offspring in Humans?
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Sex-Limited, Influenced Traits and Sex Linked
Some traits are carried on the sex chromosomes = X and Y Most Traits are on X Y is smaller, so few genes located.
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Sex-Limited Traits Genes inherited by both male and female but expressed only in one sex due to SEX HORMONES EX: Beards, breasts, antlers, milk production, feathers on bird
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Sex-Influenced Traits
Autosomal genes influenced by sex. Genes DOMINATE in one sex and RECESSIVE in other Males and females with the same genotype will have different phenoypes EX: Index vs Ring finger Short index finger: Dom. in Males Rec. in Females (FYI: Shorter man’s index finger, the higher amt of prenatal testosterone (corresponds to physically aggressive behavior)
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Sex-Influenced Traits
Examples Continued: Hairlip and Gout Dominant in males Recessive in females Spina Bifida: Dom. in females Rec. in Males
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Sex-Influenced Traits
Other Examples: Baldness: Dom. In Males Rec. in Females B=baldness, B’=normal hair BB=bald (male/female) B’B’=normal hair (male/female) BB’= bald (male) normal (female
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The Adams family
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Sex Linkage Controlled by GENES on SEX CHROMOSOMES.
X chromosome is larger than y more genes carried on the X X-Linked Genes: genes found on X chromosome Appear mostly in males Only one copy of X; nothing to counteract “bad gene” Females would need two copies to express trait
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Traits on X Chromosome Red-Green Color Blindness (XR Xr Y°)
Hemophilia (inability of blood to clot) XH-normal XHY° XhY°-hemo Muscular Dystrophy (I muscles)
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4) Sex-linked traits A recessive gene on the X chromosome
Examples: color-blindness & hemophilia Genotypes: Phenotypes: XNY normal male XnY colorblind XNXN normal female XNXn carrier female XnXn colorblind
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normal vision “weak red” “weak green”
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XN Y XN Xn XNXN XNY XN Xn XnY Cross of carrier female & normal male
Phenotypes???
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Hemophilia X-linked recessive Most Common in males “Bleeder’s Disease”
Missing clotting factor Bleeding spontaneously and in joints
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Xh Y XH Xh XHY XHXh Xh Xh XhY Hemophilia
Hemophila is sex-linked recessive trait. Normal clotting is dominant. Hemophiliac Male X Carrier (Heter.) Female LET: XH normal Xh hemo YO no trait Xh Y XH XHY XHXh Xh Xh Xh XhY
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Carrier Mom XHXh XHXH XHXh XHY XhY
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Royal Hemophilia
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Sex linkage & calico cats
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Traits on Y CHROMOSOMES
Ex. Long Hair on Earlobes 3 Muslim brothers from South India.
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5) Nondisjunction Failure of chromosomes to separate
May cause a variety of birth defects, including trisomy 21 or Down syndrome
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nondisjunction
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Trisomy 21
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Klinefelter’s syndrome
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Klinefelter’s
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Super male Super male
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Turner’s syndrome XX XX O Only 1 sex chromosome is present.
*Associated with underdeveloped ovaries, short stature, webbed neck, and broad chest. *Individuals are sterile, and lack secondary sexual characteristics. *Mental retardation typically not evident . XX XX O
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6) Pedigree Chart showing family history of a trait
Solid light = homozygous dominant, solid dark = homozygous recessive, half-circle = heterozygous
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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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Polydactyly (multiple fingers and toes)
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