Genetic Disorders BIOL 101 UNC Lab

Turner's Syndrome characteristics

Short height, webbing of neck, may have low mental ability

Is Turner's syndrome inherited?

No, Turner's Syndrome is not inherited

Is Turner's syndrome dominant or recessive?

It is neither because it is non-Mendelian

Phenylketonuria (PKU) characteristics

Fair/light features, abnormally small head, slower growth rate, behavioral problems, intellectual issues

Is PKU inherted or not?

Yes, inherited

What pattern is PKU inherted?

Autosomal recessive

What gene is mutated in PKU?

PAH gene

What gene is mutated in Turner's Syndrome?

SHOX gene

Cystic Fibrosis characteristics

Chronic respiratory infections, shortness of breath, bronchitis, digestive issues, reduced fertility, liver disease, thick mucus

Is Cystic Fibrosis inherted?

Yes, inherited

What pattern is Cystic Fibrosis inherited?

Autosomal recesisve

What gene is mutated in Cystic Fibrosis?

CFTR gene

Sickle Cell Anemia characteristics

Anemia due to low supplu of healthy red blood cells, severe pain due to blocked blood flow in small vessels, swelling, frequent infections, stroke risk, organ damage.

Is Sickle Cell Anemia inherited?

Yes, inherited

What pattern is Sickle Cell Anemia inherited?

Autosomal recessive

What gene is mutated in Sickle Cell Anemia?

HBB gene

Breast Cancer characteristics

Lump/mass in breasts, skin changes, swelling, pain

Is Breast Cancer inherted?

Around 5-10% of breast cancer cases are inherited, and you are more likely to get it if you have a family history of breast cancer.

However, other factors like age, somatic mutations, etc. can also affect breast cancer chances.

What gene is mutated in Breast Cancer?

BRCA 1 and BRCA 2

Cri-du-Chat characteristics

Cat-like cry, severe physical and mental abnormalities, non-lethal/cannot cause death

Is Cri-du-Chat inherited?

No, not inherited

But if a parent has an abnormality to chromosome 5, there is a higher chance the child will have cri-du-chat

What gene is mutated in Cri-du-Chat?

deletion of genes on chromosome 5 during meiosis or during early fetal development