Inheritance Patterns Flashcards
Albinism
AR
Tyrosinase
Inability to produce melanin
Cystic firbrosis
AR
Cystic fibrosis transmembrane conductance regulator
Water imbalance in pancreas, lungs, intestines, and sweat glands due to impaired chloride ion transport.
Phenylketoneuria
AR
Phenylalanine hydroxylase
Foul-smelling urine, neurological abnormalities, mental impairment, may be remedied by diet regulation starting at birth to reduce phenylalanine intake
Sickle cell disease
AR
b globin
anemia, blockages in circulation
Tay-Sachs disease
AR
Hexosaminidase (HexA)
Progressive neurodegenerative disease (early onset)
Aniridia
AD
Pax6 transcription factor
Absence of iris in the eye, leads to visual impairment and sometimes blindness
Achondroplasia
AD
Fibroblast growth factor receptor-3
Common form of dwarfism associated with defect in the growth of long bones.
Marfan syndrome
AD
Fibrillin-1
Tall and thin, abnormalities in the skeletal, ocular, and cardiovascular system due to a weakening in the elasticity of certain body tissues.
Familial hypercholesterolemia
AD
LDL receptor
Very high serum levels of LDL, predisposing factor in heart disease
Huntington disease
AD
Huntington protein
Neurodegeneration that occurs later in life, usually during middle age. Chorea = jerky movement.
Duchenne muscular dystrophy
XR
Dystrophin
Progressive degeneration of muscles beginning in early childhood
Hemophilia A&B
XR
A = factor VIII B = factor IX
Blood clotting disorder
Androgen insensitivity syndrome
XR
Androgen receptor
Missing steroid hormone receptor (testosterone), XY individuals have feminine external features, but have undescended testes and no uterus
Vitamin D-resistasnt rickets
XD
Metallopeptidase
Defects in bone mineralization at sites of growth or remodeling, leads to bone deformities and stunted growth in children.
Rett syndrome
XD
Methyl-CpG-binding protein-2
Neurodevelopmental disorder that includes a deceleration of head growth and small hands and feet. Fatal in males.
