Ch. 3 Genetic Basis of Disease

Flashcards covering key terminology and concepts related to genetic disease from the lecture notes.

Cystic Fibrosis (CF)

An autosomal recessive disorder, most common lethal inherited disease in Caucasians, caused by a defect in the cystic fibrosis transmembrane conductance regulator gene (CFTR).

Symptoms of Cystic Fibrosis

Include persistent cough, wheezing, frequent lung infections, greasy/bulky foul-smelling stools, poor weight gain despite increased appetite, salty-tasting skin, and varying severity in symptoms.

Meconium ileus

A condition where the newborn's first stool gets stuck due to thick mucus, often associated with cystic fibrosis.

Lysosomal Storage Disease

A group of diseases caused by the failure of lysosomes to break down harmful substances, leading to accumulation.

Tay-Sachs Disease

A lysosomal storage disease characterized by the accumulation of gangliosides in the CNS due to a mutation in the hexosaminidase A enzyme; prevalent in Ashkenazi Jews.

Down Syndrome

The most common chromosomal disorder caused by trisomy 21, characterized by a flat facial profile, epicanthic folds, and a wide variation of IQ.

Risk factors for Down Syndrome

Maternal age is a significant risk factor; 1:1,500 births for ages 15-29 and 1:50 for mothers over 45.

Huntington’s Disease

An autosomal dominant disorder caused by disruptions in the huntingtin protein due to trinucleotide repeats (CAG), resulting in progressive breakdown of nerve cells.

Symptoms of Huntington’s Disease

Include movement disorders like chorea (involuntary dance-like movements), cognitive decline, and psychiatric issues.

Treatment for Huntington’s Disease

Includes the use of antidepressants, antipsychotic medications, and anticonvulsants; no cure is currently available.