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Genetics Question

Jasper Saris jasper%ruly46.leidenuniv.nl
Fri Dec 29 07:55:55 EST 1995

imxtc4u at gate.net wrote:
: I not a regular reader of this group, so if the following question is
: not appropriate, my apologies.

: I have a couple questions that perhaps someone could 
: answer for me. It has to do with genetics. 

If a person : is a carrier of a defective gene for a neuro-muscular :
problem, I assume they wouldn't necessarily have any : symptoms.  Am I
correct? Correct, depending on several factors. If the variant gene has a
recessive impact you need two not-normal funtioning copies. One on each
chromosome. If the "defect" is dominant only one copie is sufficient for
disease development. Often it is more complex and more genes are involved
(genetic bakground variation) or environmental factors have a role. If you
have at a point do get a name for your disease you could go to the OMIM
database from GDB (Genetic DataBase?) USA, f.i. via www.gdb.org.  There
you can get more information. For instance on the pattern of inheritance.
A genetic Counsellor should be able to "translate" the scientific talk if
that would be a problem. Anyway he can explicate one the day-to-day
long-term effects. 

  Second if a father and mother
: were both carriers, would all the children suffer from
: the problem or would some of them be exepted for some
: reason or another? 
Yes, depending of the disease type and particular inheritance of their 

 : I am trying to determine where something started within 
: the family.  It has started with my father but none of 
: his siblings (all females living) had the problem.  Both 
: my sister and I have neuromuscular problems of undetermined 
: cause at this time.  I've sent out letter to others with 
: the same last name across the US to see if the same thing has
: happened within other branches of the family.  So far,
: it has not.  Kindly respond directly.

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