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Doctor insights on: Mpl W515 And S505 Mutation Qual

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What kind of mutation is canavan's disease?

What kind of mutation is canavan's disease?

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. ...Read more

Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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What is the definition or description of: mutation?

What is the definition or description of: mutation?

Mutation is a change: In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna by mobile genetic elements. ...Read more

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What is an example of a helpful mutation in humans?

What is an example of a helpful mutation in humans?

All healthy genes: Every one of our genes has mutated repeatedly and been selected for over the course of evolution. Now, I happen to carry a mutant iron transporter that makes it easier for me to keep my iron supplies loaded despite donating blood. Two doses can make me sick. Beneficial mutations usually don't get detected. One mutant erythropoietin receptor created a family of world-class athletes. Etc. ...Read more

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I was wondering is distichiasis inherited or a mutation?

Sometimes inherited: Distichiasis (abnormal growth pattern of eyelashes) can sometimes be inherited if it is a part of a genetic syndrome. Mutation in a gene often causes a syndrome. Distichiasis can also be caused by non-genetic factors such as burns of the eye, chronic infections in that area etc. ...Read more

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

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

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. ...Read more

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How would mutations have both positive and negative impacts?

Good and bad effects: Mutations are genetic changes that can eliminate a problem, cause a problem or introduce a new solution to the environment. Since most mutations create problems, they have achieved a bad name. But most evolutionary change comes about from the effects of new mutations. ...Read more

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Am 28y and my first baby is down , its bciz random mutation what the chance to have another one with down ?!

About 1% added : The basic of a trisomy 21 ds varies with age, being 1/800 at 30-34, 1/270 at 35-40.A previous ds birth adds 1% if it was a traditional trisomy 21 ds . A discussion with a geneticist affiliated with a med school or kids hospital could provide with all your risk factors in detail. ...Read more

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What mutation causes haemochromatosis?

More than one: There are at least 4 different type of genes involved in hemochromatosis mutations. See this site for more info. http://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis ...Read more

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How are sunburns and mutations related?

How are sunburns and mutations related?

Sunburns and mutatio: The ultraviolet light from the sun can affect the DNA in the skin cells. ...Read more