Linkage Analysis of a Candidate Locus (HLA) in Autosomal Dominant
Sacral Defect with Anterior Meningocele
S. Chatkupt, M.C. Speer, Y. Ding, M. Thomas, E.S. Stenroos,
J.J. Dermody, R. Koenigsberger, J. Ott , W.G. Johnson
American Journal of Medical Genetics , 52(1),1--4 (1994 Aug 1)
Abstract
Sacral defect with anterior meningocele (SDAM) is a type of caudal
dysgenesis. It is present at birth and becomes symptomatic later in
life, usually because of obstructive labor in females, chronic
constipation, rectal fistula and abscess, or meningitis. The
inheritance is autosomal dominant. HLA has been implicated in caudal
dysgenesis because of analogy with disorders of the T-locus complex,
a tail length determining gene in mice which is linked to the major
histocompatibility complex, H-2. Members of a 5-generation family
with sacral defect and anterior meningocele (SDAM) were typed with
polymorphic markers (dinucleotide repeats D6S89, D6S105, D6S109, and
TCTE1) linked to HLA. Two-point and multipoint analysis exclude the
HLA region as the location for the SDAM gene in this family.
