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A 43-year-old member asked:

what happens if a condition is caused by a dominant mutation on an autosome:?

1 doctor answer10 doctors weighed in
Dr. Patrick Tapia
Psychiatry 13 years experience
Many generations: The condition will be seen generation after generation in some individuals in the family, and will not skip generations although eventually with new family members introduced into the family children may be born without it due to the dominant allele potentially being replaced by a wild type normal allele that is not associated with the effects of the dominant mutation. Take care!

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A 38-year-old member asked:

Is there a commercial test to look at the kras mutation?

2 doctor answers5 doctors weighed in
Dr. Karl Muench
Clinical Genetics 61 years experience
Yes, but...: Yes, but more context is needed, because blood tests for kras are applicable to noonan syndrome and cardiofaciocutaneous syndrome, and tumor tests for kras are relevant to treatment of metastatic colorectal cancer.
A 44-year-old member asked:

Are drugs in development that are effective in killing k and n-ras mutations?

1 doctor answer3 doctors weighed in
Dr. Liawaty Ho
Hematology and Oncology 23 years experience
Yes for k ras mutati: There are promising drugs in the development to inhibit k-ras mutation. Not sure what is the role of n-ras mutation in cancer and cancer therapy , however.
A 36-year-old member asked:

How can I find out if I carry the chromosome mutation for agammaglobulinemia?

1 doctor answer2 doctors weighed in
Dr. Dan Fisher
Internal Medicine 27 years experience
Genetic counsellor: There are several possible tests that could be done. Because testing is expensive and highly specialized it needs to be focused on the right target. Depending upon your history and relations with or without disease it may make sense to use one test and not another or not test at all. If this is a real concern i would see your doc for referral to a genetic counsellor.
A 32-year-old member asked:

What is the difference between a mutation and a chromosonal abnormality?

1 doctor answer1 doctor weighed in
Dr. Martin Rubenstein
Hematology and Oncology 45 years experience
Degree.: A mutation usually refers to a change in a gene changing its function. A chromosomal abnormality usually means a gross change to a chromosome like a loss of all or part of a chromosome (deletion) or the moving of one part of one chromosome onto another chromosome (translocation) causing abnormal cellular behavior. Deletions and translocations usually cause major problems. Mutations may be silent.
A 42-year-old member asked:

What kind of mutation is canavan's disease?

1 doctor answer1 doctor weighed in
Dr. Jefferson Chen
Neurosurgery 34 years experience
Chromosome 17: Canavan's disease is an autosomal recessive inherited disease mapped to chromosome 17. This disorder falls into the family of leukodystrophies. This refers to a problem with myelin formation. Myelin is a key covering of the nerve sheaths. There is a specific enzyme aspartoacylase that is deficient. This is important in the pathway that leads to myelin formation. Patients have neurologic problems.

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Last updated Nov 28, 2017
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