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familial segregation analysis?

Zito zito at cmns.mnegri.it
Thu Nov 2 07:12:25 EST 1995


Hi friends,
on the basis of the quality (and the number) of answers received from a
previously posted question, I decided to re-contact this newsgroup.

I would appreciate very much if someone could help me in solving the
following doubts: I am involved in the study of a genetical defect,
probably segregating in families with a specific disease.

I have at disposal 18 unrelated probands, each of them with a modified
(diseased) phenotype, and I would like to verify the association of it
to the genetic defect.
No literature exists on this possible association.

The same parameter has been detected in the respective families of the
subjects. Each studied family is composed by: mother, father and two
brothers of the proband. However I DON'T KNOW which is the TOTAL number
of the components of the families... Could it be a limit?
Of the total 90 subjects, I verified both the presence (or the absence)
of the defect and the anamnesis of the disease.
My data seem to suggest that the searched association could exist,
anyway...

Does it exist a method to evaluate the direct link between the defect
and the disease, on the basis of the available data?

Does anybody know how should I increase the number of families (or
probands) to correctly verify it?

Each kind of suggestions or comments will be welcome... 
Let me hope that I have been clear enough.
Thank you very, very much for your attention.

Sincerily Yours, Franco

*e-mail address: zito at mnegri.cmns.it 

  



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