Genetic Diseases

What type of inheritance is Cystic Fibrosis?

autosomal recessive

Main symptoms of cystic fibrosis?

chronic cough, wheezing, poor digestion, clubbing, pancreatitis, polyps in nasal pathway, fertility issues

What is cystic fibrosis caused by?

inherited genetic mutations in the CFTR gene (codes for protein that controls how much salt and water move in and out of cell)

Symptoms of sickle cell?

fatigue, shortness of breath, vision problems, delayed puberty, anemia, swelling of extremities

Sickle cell inheritance type?

autosomal recessive

How do you get sickle cell?

• mutation in HBB gene (hemoglobin beta gene)

• RBCs become sticky, stiff, and sickle shaped

Symptoms of breast cancer?

breast lumps, thickened skin in breast, nipple discharge

Inheritance type of breast cancer?

autosomal dominant; can be inherited or randomly caused

What gene is affected by breast cancer?

Mutations in your BRCA 1 and BRCA 2 genes

Symptoms of PKU?

• intellectual disabilities, behavioral problems, seizures, musty body odor

• mostly affects brain cells

Inheritance type of PKU?

autosomal recessive

What gene is affected by PKU?

Mutation in PAH gene on chromosome 12 (body cannot break down phenylalanine - comes in protein foods)

Symptoms of CriduChat?

• “cat like” cry in infants, delayed development, weak muscle tone, low birth weight, delayed development

• physical : small head, round face, low-set ears, wide nose, wide spaced eyes

Inheritance type of CriduChat?

• usually chromosomal deletion that is random

• if inherited that is from balanced translocation from unaffected parent

What gene is affected by CriduChat?

short arm of chromosome 5

Symptoms of Turner’s Syndrome?

slowed growth, short fingers/toes, small jaw, infertility, shorter height, cardiac defects, webbed neck, droopy eyelids

Inheritance type of Turner’s Syndrome?

• Not typically hereditary

• Spontaneous error but partial deletion can be passed down (x-linked)

What gene is affected by Turner’s syndrome?

• SHOX gene (on short arm of X chromosome)

• entire X chromosome or part is lost