HUMAN GENETICS GENETIC DISORDERS

AUTOSOMAL RECESSIVE ALBINISM: LACK OF PIGMENT CYSTIC FIBROSIS: EXCESS MUCUS PHENYLKETONURIA (PKU): ACCUMJULATION OF AMINO ACID PHENYLALANINE; CAN CAUSE MR TAY-SACHS DISEASE: LIPID ACCUMULATION IN BRAIN CELLS; MR, BLINDNESS, DEATH IN EARLY CHILDHOOD

AUTOSOMAL DOMINANT ACHONDROPLASIA: DWARFISM HUNTINGTON’S: MENTAL/NERVOUS SYSTEM DETERIORATION; ONSET IN MIDDLE AGE HYPERCHOLESTEROLEMIA: EXCESS CHOLESTEROL IN BLOOD; HEART DISEASE

SEX-LINKED GENES COLORBLINDNESS HEMOPHILIA: LACK CLOTTING FACTOR DUCHENNE MUSCULAR DYSTROPHY: PROGRESSIVE WEAKENING AND LOSS OF SKELETAL MUSCLE

X-CHROMOSOME INACTIVATION ONE X IN FEMALES IS “TURNED OFF” BARR BODY IN THE NUCLEUS CALICO CATS: X THAT IS TURNED OFF VARIES THROUGHOUT BODY

CHROMOSOMAL DISORDERS NONDISJUNCTION: FAILURE OF CHROMOSOMES TO SEPARATE CREATING ABNORMAL NUMBER OF CHROMOSOMES DOWN SYNDROME: TRISOMY-21; 3 COPIES OF CHROMOSOME 21 1 IN 800 U.S. BIRTHS MILD/SEVERE MR, ENLARGED TONGUE, CURVED PINKY, SLANTED EYES (MONGOLISM)

CHROMOSOMAL DISORDERS SEX CHROMOSOME DISORDERS: NONDISJUNCTION OF X OR Y TURNER’S SYNDROME: IN FEMALES;(XO); STERILE, LACK OF SECONDARY SEX CHARACTERISTICS

CHROMOSOMAL DISORDERS KLINEFELTER’S: IN MALES; XXY, INFERTILE