1. HUMAN GENETICS
GENETIC DISORDERS

2. 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

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

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

5. 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

6. 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)

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

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