Question 1

what kind of mutation is canavan's disease?

Accepted Answer

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.

Question 2

what is an example of a helpful mutation in humans?

Accepted Answer

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.

Question 3

what is the definition or description of: mutation?

Accepted Answer

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.

Question 4

i was wondering is distichiasis inherited or a mutation?

Accepted Answer

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.

Question 5

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

Accepted Answer

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.

Question 6

how would mutations have both positive and negative impacts?

Accepted Answer

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.

Question 7

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

Accepted Answer

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.

Question 8

what mutation causes haemochromatosis?

Accepted Answer

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

Question 9

how are sunburns and mutations related?

Accepted Answer

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

Question 10

what are the causes of gene mutations in chromosone 4?

Accepted Answer

Luck: Mutations are usually luck based. Bad luck. Other non-genetic deformities are often genetic or environmental, but can also be bad luck too.

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Mpl W515 and S505 mutation

A member asked:

What kind of mutation is canavan's disease?

A member asked:

What is an example of a helpful mutation in humans?

A member asked:

What is the definition or description of: mutation?

A member asked:

I was wondering is distichiasis inherited or a mutation?

A member asked:

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

A member asked:

How would mutations have both positive and negative impacts?

A member asked:

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

A member asked:

What mutation causes haemochromatosis?

A member asked:

How are sunburns and mutations related?

A member asked:

What are the causes of gene mutations in chromosone 4?

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