Neurofibromatosis

Richard Kerr kerrr at CRYPTIC.RCH.UNIMELB.EDU.AU
Mon Apr 7 18:48:39 EST 1997


At 14:51 7/04/97 GMT, you wrote:
>Hello neurologist of the webs,
>
>How is family linkage studies possible in neurofibromatosis if the gene is
>not X-linked?
>
>CSC  
Hello bearpy,

yes family linkage studies on this disorder are possible.  Perhaps you
should review your genetics 1 as ALL your chromosomes are inherited from
your mother and father, not just the sex chromosomes, X and Y.  It is simple
(but timeconsuming) to haplotype your chromosomes using analysis of
polymorphisms within each pair of chromosomes (there is a flash name for it,
which has escaped me at the moment) usually by looking at the number of CA
repeats at certain points of the chromosomes.  Thus, you can figure out
which copy of chr. 10 is from your mum, which copy is from your
Dad......alternatively, you just track the course of the disease in your
family and try to fit its incidence to one of the modes of inheritance that
are commonly observed. (eg: dominant, recessive, varying degrees of
'penetrance', dominant negative etc).

I'm no expert, if I've stuffed up, please correct me.
Richard Kerr.
The Murdoch Institute,
R.C.H. Flemington Rd, Parkville, 3052,
AUSTRALIA.
kerrr at cryptic.rch.unimelb.edu.au
Phone (61) 3 9345 5045.




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