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Old 04-26-2017, 01:48 PM
LouLou1978 LouLou1978 is offline
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Join Date: Feb 2015
Location: UK
Posts: 153
8 yr Member
LouLou1978 LouLou1978 is offline
Member
 
Join Date: Feb 2015
Location: UK
Posts: 153
8 yr Member
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Quote:
Originally Posted by kiwi33 View Post
Autosomal dominant diseases arise when somebody has inherited a mutant form of a gene which codes for a protein which has a pathological "gain of function" effect.

They are very rare and show a very strong genetic pattern. If your SFN arises from an autosomal dominant effect then one of your parents would also have SFN as would one of their parents and so on. The fact that this is not part of your family history means that an autosomal dominant effect can be confidently ruled out.

The MTHFR gene effects which mrsD has mentioned are different. Mutants of this gene (there are a couple of common ones) lead to its encoded protein having an impaired function. This can have many effects and is certainly worth checking out - the Oxford geneticist should be able to advise you about this.
Thanks Kiwi. I also wonder if members of my family did have this they had it mildly so didnt say. My dad died at 57 of pancreatic cancer. His wife my step mum said he never had sfn complaints. My mum is obese and is in pain from weight but not aware of any complaints re sfn. Spoke to my 88 year old grandad who says never heard of this type of complaint in family. Dad who died had twin brother who had no complaints. Don't understand how this can be genetic. With the gene Mrs d mentioned, would I not have a vitamin deficiency? All my blooks show normal?
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