L. Scapoli et al., EVIDENCE OF LINKAGE TO 6P23 AND GENETIC-HETEROGENEITY IN NONSYNDROMICCLEFT-LIP WITH OR WITHOUT CLEFT-PALATE, Genomics, 43(2), 1997, pp. 216-220
Nonsyndromic cleft lip with or without cleft palate (CL+/-P) is a cong
enital orofacial anomaly that derives from an embryopathy with failure
of nasal process and palatal shelves fusion. CL+/-P is one of the mos
t common malformations, affecting 1/700-1/1000 live births among Cauca
sians. Early investigations have suggested that a clefting gene may be
located on the short arm of chromosome 6 (6p), as well as in other re
gions. In this study, we analyzed a large sample of families by using
eight PCR markers that map on chromosome region 6p23-p24. The admixtur
e test, as implemented in the HOMOG program, was significant when test
ed against multipoint data (alpha = 0.60, P value 0.00004); the lod sc
ore calculated, assuming heterogeneity, was 3.60 at 1 cM telomeric to
D6S259. Taken together these data demonstrate the presence of a locus
for CL+/-P in the 6p23 chromosome region. (C) 1997 Academic Press.