[Bioforum] Re: Human Gene Nomenclature

Bob bbx107 at excite.XXXX.com
Thu Jan 19 21:16:01 EST 2006

On 19 Jan 2006 06:43:43 -0800, artyw2 at yahoo.com wrote:

>Bob wrote:
>> On 15 Jan 2006 09:30:03 -0800, artyw2 at yahoo.com wrote:
>> >Is the proper nomenclature for the wild type allele of  a human disease
>> >gene always  just "+"? Or would it be, for example HD(superscript)+,
>> >for the Huntington's disease gene wild type allele?
>> >http://www.gene.ucl.ac.uk/nomenclature/guidelines.html has some rules
>> >on naming symbols, but I cant seem to find this point addressed.
>> The wild type allele is the + allele. How you show it would depend on
>> context, but somehow you need to be clear what gene you are talking
>> about. So I don't know what you mean by saying just +.
>> bob
>Thanks, Perhaps I need to be clearer...
>For some organisms you could, for example, write a genotype A/+, where
>A is some dominant allele. You could also write +/+ if it was clear
>what gene you were talking about. If I want to say that a human is
>heterozygous for the Huntington's disease alelle, would I say their
>genotype is HD/+? (or HD/HDsuperscript+)?

Got it.

I'd go for HD/+, since context is perfectly clear.

I should caution that my answer has no official standing. I do have a
background in genetics, mainly microbial. I’ve answered more on
"logic" than anything. Certainly the page you referred to does not
address this specifically.

Perhaps with your clearer (more focused) question someone will jump
in, if there is some official subtlety that you need.

Also note that journals can be very helpful here. Choose a relevant
journal, and check their instructions for authors (usually online
nowadays, and in some issues). The journals have a real stake in
making their rules clear, as it makes things much easier for them.


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