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NOTES Complex Inheritance and Human Heredity PEDIGREE – graphic representation of genetic inheritance. - female - male - w/trait - w/trait -heterozygous for trait (carrier) -heterozygous for trait (carrier) Recessive alleles cause most genetic diseases, so the individual with the disease must inherit one allele for the disease from each parent (must be homozygous) – thus making these diseases rare. (i.e. cystic fibrosis, Tay-Sachs, albinism) If an individual has just one dominant allele, the trait will not be expressed. Carrier – someone who is heterozygous for a recessive disorder Dominant Genetic Disorders – caused by dominant alleles. Those who do not have the disorder are homozygous recessive for the trait. (Huntington’s, achondroplasia) Autosomes – chromosomes #1 – 22 Sex Chromosomes – 23rd pair of chromosomes in humans determine the individuals sex. If 23rd pair of chromosomes is: XX = female Females can only produce gametes with X chromosomes XY = male Males can produce gametes with either X or Y chromosomes. 1:1 ratio of males to females: PATTERNS OF INHERITANCE: Type of Definition Inheritance Inheritance Simple pattern based on Mendelian Mendel’s Laws. Dominant traits mask recessive traits. Where the phenotype of a (R and R’ used heterozygote is intermediate instead of between those of R and r) the two homozygotes Where the Codominance phenotype of both parent’s (two different uppercase letters alleles are expressed are used) equally in the phenotype of heterozygous offspring Incomplete Dominance Examples Other Information Pea Plants – crossing Tall (TT) x Short (tt) yields all Tall (Tt) offspring. Attached earlobes (ff) are recessive. Recessive: TaySachs, cystic fibrosis In snapdragons, crossing Red (RR) with White (R’R’) yields all Pink (RR’) offspring. Huntington’s Disease – Dominant disease is rare. Those without Huntington’s are homozygous for the trait. In chickens, crossing Black (BB) with White (WW) yields all checkered (BW) offspring. In humans, sickle anemia is an example. R’ indicates incomplete dominance. Neither allele is dominant. Type of Inheritance Multiple Alleles Definition More than one allele controls the trait. Examples Other Information Blood types IA IA or IAi = type A Coat color in rabbits. IB IB or IBi = type B IA IB = type AB ii = type O Epistasis Dosage Compensation Polygenic Sex-linked (written as superscripts of the X or Y chromosome – XB) One allele hides the effect of another. Since females get 2X chromosomes, to compensate, one stops working in each of the female’s body cells. Which one stops working is completely random Inheritance pattern of a trait controlled by two or more genes. May be on same or different chromosomes Phenotypes show a continuous range of variability. Traits controlled by genes located on the X chromosome. Fur color in dogs. Calico cats (this is why all calico cats are female) Humans: skin color eye color height Plant stem height In fruit flies – eye color XX – female XY – male Humans: red/green colorblindness (X-linked), hemophilia (Xlinked) Since the Y chromosome has no other corresponding allele, many males have recessive linked diseases. In females, the recessive trait can be masked by a dominant trait on the other X chromosome. Abnormal number of chromosomes Trisomy – has an extra chromosome (47 instead of 46) Down Syndrome Environmental Influences Sunlight and water Temperature Twin studies Researchers study identical twins to help them separate genetic contributions from environmental contributions. Karyotype Images of chromosomes stained during metaphase Consists of 2 sister chromatids Arranged in decreasing size Female karyotype Telomeres protective end caps for chromosomes might be involved in aging and cancer Nondisjunction sister chromatids do not separate correctly resulting in one gamete with an extra chromosome after fertilization (trisomy = 47 chromosomes, i.e. Down’s syndrome = trisomy 21) and one missing a chromosome (monosomy - usually do not survive, i.e. Turner syndrome is not lethal) Fetal Testing amniocentesis chorionic villus sampling fetal blood sampling