L33 Psych 321 Lecture Notes - Lecture 7: Triple X Syndrome, Sickle-Cell Disease, Tyrosinase
4 Mar 2019
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Inherited disorders: biochemical basis of single gene disorders, enzyme defects. Deficiency in phenylalanine hydroxylase leads to excess phenylalanine: ex. Deficiency in hexosaminidase leads to excess lipid in the cns. Metabolic block decrease in end product: ex. Lack of tyrosinase leads to deficiency melanin causes: defects in receptors and transport systems albinism. Cf impaired cl- transport across sweat glands, lungs, and pancreas: alterations of proteins. Sickle cell disease altered hemoglobin leads to sickling: genetic counseling >, family tree and genetic testing, determine genes of fetus, early interventions, abnormal chromosomes, ex. Down syndrome (21st chromosome: sex chromosome disorders, klinefelter"s syndrome (xxy-xxxxy) Tall, lowered iq, sterile, gynecomastia, small testes: xyy complements. Variable phenotype, tall, acne, some have lowered iq: turner"s syndrome (x) Short, low spatial abilities, webbed neck, sterile: triple x syndrome (xxx) Tall, lanky, delayed motor/lag: fragile xy-xx. Heredity is not destiny: genes influence behavior indirectly depending on environment, reaction range.
