MadSci Network: Genetics
Query:

Re: What eye diseases can be inherited and carried by the male?

Date: Thu Jun 14 17:12:57 2001
Posted By: Kenneth Mitton, Post-doc/Fellow, Molecular Development Retina, Cataract, Dept Ophthalmology / U. Mich
Area of science: Genetics
ID: 990288271.Ge
Message:


Basically, any genetic disease is inherited autosomal or X-linked (on the 
X chromosome). And they are typically dominant or recessive. A dominant 
disease gene means that you only need to get one copy of the gene that is 
"bad". We have two copies of each chromosome and then we have two X 
chromosomes (female) or one X and Y chromosome (male). A disease gene may 
also be recessive, which means you need to get two copies of the 
"defective" gene before there is a problem..i.e. if you have one good copy 
you will be OK. If you do not have the disease and your brother does, then 
is it not X-linked, because your brother got his single X chromosome from 
his mother. THen your dad has either autosomal dominant or autosomal 
recessive condition. There are many genetic diseases causing retinal 
degeration, but one cannot tell the gene unless your family actually 
donates a blood sample to a research group to map the location (ie. 
chromosome and region of chromosome).  It is theoretically possible that 
you carry the mutation and it is recessive, i.e. disease gene from father 
and normal gene copy from mother. You could pass it on to sons or 
daughters, and it will only be a problem if they get a second "problem" 
copy of the gene. It is also posible that your dads degeneration is 
dominant (one "bad" and one good gene) and that your brother got the bad 
gene from your dad and you got the good one. IN that case, you have no bad 
gene to pass on. If you so choose, you can query others in your family, 
uncles aunts, grandparents , cousins to see if anyone else has the 
problem. That makes it easier to map a disease condition in the genome. It 
may be that your dad is the "founder", ie. the mutation just arose in 
him.If you wish to find out more, you can visit my ERN website:

http://ken.mitton.com/ern

and visit the link to RETNET to see a list of many known retinal disease mapped to date. Sometimes different mutations in the same gene create very different kinds of retinal diseases, so no one can know the gene simply from the medical nature of the disease. You can also use the ERN website to browse to various research centers where you may find some one interested in helping you further.

Ken Mitton, PhD

currently u mich, Assistant Prof, ERI, Oakland University start Aug 1/01


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