Evidence of linkage to 6p23 and genetic heterogeneity in nonsyndromic cleft lip with or without cleft palate.
Nonsyndromic cleft lip with or without cleft palate (CL+/-P) is a congenital orofacial anomaly that derives from an embryopathy with failure of nasal process and palatal shelves fusion. CL+/-P is one of the most common malformations, affecting 1/700-1/1000 live births among Caucasians. Early investigations have suggested that a clefting gene may be located on the short arm of chromosome 6 (6p), as well as in other regions. In this study, we analyzed a large sample of families by using eight PCR markers that map on chromosome region 6p23-p24. The admixture test, as implemented in the HOMOG program, was significant when tested against multipoint data (alpha = 0.60, P value 0.00004); the lod score 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.
Scapoli
L
L
Institute of Histology and General Embryology, University of Ferrara, Italy.
Pezzetti
F
F
Carinci
F
F
Martinelli
M
M
Carinci
P
P
Tognon
M
M
D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007558:Italy; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D012984:Software; D044465:White People