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Patterns of Heredity Karyotype Picture of chromosomes arranged in homologous pairs. #1-22 called autosomes #23 called sex chromosomes Pedigree-graphic representation of a family’s genetic history Simple Recessive Diseases (little,little) Tay Sachs-missing enzyme that metabolizes fats. Fats accumulate in brain. Fatal Cystic Fibrosis- excessive mucous production in the lungs.”Drown” in own fluid Phenylketonuria-(PKU)- body can’t metabolize phenylalanine into tyrosine – Phenylalanine accumulates. Monitor intake amount. Simple Dominant Traits (Big,Big or Big,little) Widows peak Free hanging ear lobes(attached) Huntington’ Disease- slow ,progressive neurological disease that appears after age 35-become incapacitated. Loss of muscle and motor control. SEX DETERMINATION pair #23- sex chromosomes xx= female xy= male Sex Chromosome Disorders X0- Turners Syndrome-female who is sterile XXY- Klinfelter’s Syndrome- males with an extra X.Sterile. No baby has been born without an X-vital for embryonic survival. With no Y, baby is female.Y chromosome contains sex determining region that causes male sexual development. Nondisjunction chromosomes fail to separate during meiosis. Ex. Down’s Syndrome- trisomy 21 extra #21 chromosome Sex linked traits Carried on the X chromosome Mostly males affected because they have only 1 X chromosome Colorblindness Hemophilia-no clotting factor XHXh- Female carrier XhY- Male affected XhXh- Female affected Complex Inheritance Traits Sickle cell anemia common to black African Americans Hemoglobin doesn’t bind to O2 properly Cells are sickle shaped Clot easily Homozygous(ss) have disease Heterozygous(Ss) show some traits Blood groups 4 blood types-A, B, AB, O 3 alleles- IA,IB,i Type O is universal donor-no marker on cell(generic) Type AB- universal recipient- no antibodies in serum TYPE GENOTYPE On cells In serum A IAIA/IAi A B IBIB/IBi B AB IAIB A and B Anti B antibodies Anti A antibodies Nothing O ii Nothing Anti A antibodies Anti B antibodies