Genetic Diseases- BIOL 101L Final

Breast cancer gene

BRCA1 & BRCA2, autosomal dominant

Breast cancer symptoms

Lumps in breast or underarm, nipple discharge, change in breast skin appearance

Breast cancer testing

Diagnositc & screening mammograms, MRI, ultrasound, biopsy

Cri-du-chat gene

5p-

Cri-du-chat symptoms

Small & round face, wide nose, wide set eyes, delayed growth, weak muscle tone, heart defects

Cri-du-chat testing

Karyotype map, FISH testing, chromosome microarray

Cri-du-chat treatment

Surgery for symptoms, genetic counseling, collaboration between professionals

Cystic fibrosis gene

CFTR, autosomal recessive

Cystic fibrosis symptoms

Breathing issues, lung infections, weight gain, digestive issues

Cystic fibrosis testing

Newborn screening- sweat test & genetic testing

Cystic fibrosis treatment

CFTR modulators, gene therapy, diets, enzyme supplements, breath control techniques

PKU gene

On chromosome 12, autosomal recessive

PKU symptoms

Fishy smell, intellectual and behavioral issues, small head size, rashes

PKU testing

Newborn- blood sample; adults- take cells from abdomen

PKU treatment

Diet, PKU formula, experimental gene therapy

Sickle cell anemia gene

HBB, autosomal recessive

Sickle cell anemia symptoms

Fatigue, pain, swelling of hands and feet, delayed puberty

Sickle cell anemia testing

Hemoglobin electrophoresis, complete blood count, newborn screening

Sickle cell anemia treatment

Medications, gene therapy

Turner’s Syndrome gene

Missing or incomplete X chromosome

Turner’s Syndrome symptoms

Short height, wide neck, non-functional ovaries, delayed puberty

Turner’s Sydrome treatment

Growth hormone therapy, estrogen therapy (must be started around 11 or 12)

Turner’s Syndrome testing

Karyotype test