Autosomal Dominant

Question 1

An autosomal dominant disease has people that carry the mutation but show no symptoms. What is this called?

Answer 1

Reduced penetrance

Question 2

A 4 foot 30 yr old comes into your clinic. You suspect ________ an autosomal dominant disease caused by a mutation in the _________ gene.

You are also worried about ….

Answer 2

You suspect ACHONDROPLASIA.

Caused by a mutation in the FGFR3 (fibroblast growth factor receptor) gene.

Worried about brain stem compression

Question 3

A 4 foot 30 yr old comes into your clinic. She asks you if she inherited the disease from her parents since it is an autosomal dominant disease. Your response is:

Answer 3

Most likely not. 80% of mutations of FGFR3 are novel.

Question 4

Breast size is determined by a gene DD. Homozygotes display larger breasts than heterozygotes. DD is most likely ______ dominant.

Answer 4

Incompletely dominant

Question 5

A man comes into your clinic with cafe-au-lait spots and Lisch nodules(eye freckles). You suspect this patient has________. Why is he at risk for tumors? What sets this disease apart from other dominant diseases?

Answer 5

Neurofibromatosis type 1

NF1 is a tumor suppressor gene.

Needs mutation in both genes to display phenotype,

Question 6

Disease where patient presents with multiple -omas. What genes cause this?

Answer 6

Probably Tuberous Sclerosis. TSC.

Question 7

A man comes into your clinic with multiple fractures and mild short stature and bluish sclera. You suspect this patient has________. A defect in the _____ Gene

Answer 7

Osteogenesis Imperfecta

COL1A1 gene

Question 8

A man comes into your clinic with long extremeties, flexible joints and a pectus excavatum. You suspect this patient has________. A defect in the _____ gene. Aside from the connective tissues in the body, you are worried that his disorder may also affect his ______ and _______.

Answer 8

Marfans
FBN1 on chromosome 15
Heart (aortic root enlargement) and Eyes

Question 9

What are some characteristics of Trinucleotide Repeat Disorders?

Answer 9

1. Slipped Mispairing
2. Anticipation (off spring more likley diseased)
3. Parental Transmission Bias

Question 10

Which trinucleotide repeat disorder characteristics are present in Huntingtons disease?

Answer 10

Paternal Transmission (paternal=early maternal=late)

anticipation

Question 11

A man comes into your clinic with _______ causing _____ _______ and _______. You suspect this patient has huntington’s disease, caused by a defect in the _____ gene, on chromosome ____.

Answer 11

Neruonal degeneration causing motor, cognitive and pyschiatric distrubances.

HTT gene on chrmosome 4

“Hunting 4 food.”

Question 12

How does the number of trinucleotide repeats affect a patient with huntingtons disease?

Answer 12

The more repeats, the earlier the onset.

This is anticipation.

Question 13

What would the worst combination be for someone with huntingtons in terms of inheretance and repeat #?

Answer 13

Paternal inheritance and lots of repeats.

Question 14

A patients arm goes to sleep and it never wakes back up. What disease is this? What mutation is associated with it?

Answer 14

Hereditary Neuropathy (HNPP)
Deletion in the PMP22 gene