Multiple endocrine neoplasia syndrome type 1 (MEN-1) is an inherited disord
er characterised by the predisposition of the cells from parathyroid glands
, endocrine pancreas and adenohypophysis to develop neoplasms. We report th
e genetic study of an extended family with at least 8 affected patients and
10 putative carriers of a mutation in MEN-1 gene.
One intragenic (Asp418 GAC --> GAT), and five flanking markers were charact
erised in the family by PCR amplification and polyachrylamide gel electroph
oresis. Association of the disease to MEN-1 gene was confirmed for this fam
ily: all the affected members show a haplotype in common. Three patients at
risk were diagnosed as non-carriers, since they have not inherited that ha
plotype. The remaining seven members, presymptomatic carriers, are included
in a follow-up protocol.
The genetic study of families segregating MEN-1 syndrome are useful in avoi
ding indiscriminate follow-up determinations to those members who have not
received the genetic predisposition to develop any of the manifestations of
the syndrome. Segregation analysis with linked markers is useful, under ce
rtain circumstances, to perform such type of studies.