Genetic Disorders (Genetics Exam 1)

Albinism

1. Tyrosinase affected

2. can't synthesize melanin

3. autosomal recessive

Cystic Fibrosis

1. cystic fibrosis transmembrane conductance regulator affected

2. water imbalance in pancreas, intestine, sweat glands, and lungs (mucous buildup)

3. autosomal recessive

Sickle Cell Disease

1. beta globin affected

2. anemia, blood circulation blockages

3. autosomal recessive

Phenylketonuria (PKU)

1. phenylalanine hydroxylase affected

2. foul-smelling urine, neurological abnormalities, mental impairment

3. autosomal recessive

Tay-sachs disease (TSD)

1. HexA affected

2. progressive neurodegeneration; die early in life

3. autosomal recessive

Alkaptonuria

1. urine turns black with air exposure, affects joints/bones

2. autosomal recessive

Aniridia

1. Pax6 transcription factor affected

2. absence of iris

3. autosomal dominant

Achrondroplasia

1. fibroblast growth factor receptor-3 affected

2. defect in growth of long bones (dwarfism)

3. autosomal dominant

Marfan syndrome

1. Fibrillin-1 affected

2. tall, thin, lanky, cardiovascular issues

3. autosomal dominant

Familial hypercholesterolemia

1. LDL receptor affected

2.high serum levels of LDL, can lead to heart disease

3. autosomal dominant

Huntington Disease

1. Huntington affected

2. neurodegeneration occuring relatively later in life

3. autosomal dominant

Duchenne muscular dystrophy

1. dystrophin affected

2. progressive degeneration of muscles

3. X-linked recessive

Hemophilia A

1. clotting factor VIII affected

2. defect in blood clotting

3. X-linked recessive

Hemophilia B

1. clotting factor IX affected

2. defect in blood clotting

3. X-linked recessive

Androgen insensitivity syndrome

1. androgen receptor affected

2. missing male steroid hormone receptor; males have external female features w/ undescended testes

3. X-linked recessive

Vitamin D-resistant rickets

1. metallopeptidase affected

2. defect in bone mineralization; stunted growth

3. X-linked dominant

Rett syndrome

1. methyl-CpG-binding protein-2 affected

2. deceleration of head growth and small hands/feet; fatal in males

3. X-linked dominant

Alcardi syndrome

1. partial/complete absense of corpus collosum, retinal abnormalities, fatal in males

2. X-linked dominant

Incontinentia pigmenti

1. NF-kB essential modulator affected

2. morphological/pigmentation abnormalities in skin/hair/teeth/nails; fatal in males

3. X-linked dominant

Hypertrichosis pinnae

1. abnormal ear hair growth

2. y-linked trait

color blindness

1. inability to see some or all colors

2. X-linked recessive