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Why are humans difficult to study? Lots of chrom Lots of genes osomes Small number of offspring Pedigree Analysis •Pedigree: family record that shows how a several __________. generations trait is inherited over ________ Genetic Traits and Disorders Single Allele Traits Dominant Huntington’s disease: forgetfulness and irritability & 40’s loss of muscle control, spasms, mental in 30’s _______; illness, death. dwarfism Achondroplasia: ____________________. extra fingers and toes Polydactyly: ________ _____________ _________ clouding ______ lens ___ of _______; eye Cataracts: _________ impaired vision, blindness. Single Allele Traits Cont. Recessive pigment of hair, skin, eyes. Albinism: lack of _________ Cystic fibrosis: abnormal cellular secretions of thick mucus lungs which accumulates in the __________. Phenylketonuria (PKU): inability to metabolize milk phenylalanine in ________; PP and Pp = normal; pp = PKU build up causes mental retardation Babies tested; those w/ PKU not given phenylalanine in diet. deterioration ___ of CNS Tay-sachs disease: causes death by _____________ ____ from lack of enzyme to breakdown fatty deposits on nerve and brain cells. Multiple Alleles Multiple Alleles: traits controlled by 3 or more alleles of the same gene. IA IB and____. i ABO blood groups controlled by 3 alleles: _____ _____ Each person’s blood contains 2 of these alleles. A type = IAi or IAIA B type = IBi or IBIB AB type = IAIB O type = ii Which cross could result in all four blood types in the offspring? IA i IB IAIB IBi i IAi ii Genetic Traits and Disorders Polygenic Traits: trait controlled by 2 or more genes 3-6 Example: skin color is influenced by __________ genes; controls the amount of pigment (melanin) in the skin. Sex-influences traits: male or female hormones may influence gene expression. Example: baldness controlled by gene B; is dominant in males but recessive in females. BB = bald in male and female Bb = bald in male, normal in female; caused by testosterone. X-linked Traits Colorblindness: recessive; inability to distinguish colors (red/green). Hemophilia: recessive, _______________ bleeding disease; impaired ability of blood to clot. Duchenne muscular dystrophy: weakens and muscle tissue destroys _____________ _____________. Non-disjunction Disorders Non-disjunction disorders: failure of chromosomes to separate in meiosis. Turner’s Monosomy X = _____________ syndrome:(45 chromosomes) underdeveloped, sterile females. Trisomy X = XXX; super females; some retarded Klinefelter’s syndrome: XXY; normal egg x XY sperm Sterile, underdeveloped males XYY: tall aggressive males, criminals?? Down’s syndrome: trisomy 21 Extra chromosome 21 Mild to severe retardation, facial features, muscle weakness, short Detecting Human Genetic Disorders Genetic screening: exam of a person’s genetic make- up. picture Ex. Karyotype = _____________ of chromosome. Ex. Blood test amniotic ________ fluid Ex. Amniocentesis: testing of ______________ from embryo. Genetic counseling: informing patients about genetic disorders and risks of having affected children.