Evidence of linkage to 6p23 and genetic heterogeneity in nonsyndromic cleft lip with or without cleft palate

被引:56
|
作者
Scapoli, L
Pezzetti, F
Carinci, F
Martinelli, M
Carinci, P
Tognon, M
机构
[1] UNIV FERRARA, SCH MED, INST HISTOL & GEN EMBRYOL, I-44100 FERRARA, ITALY
[2] UNIV FERRARA, SCH MED, CHAIR MAXILLOFACIAL SURG, I-44100 FERRARA, ITALY
[3] UNIV FERRARA, SCH MED, CHAIR BIOL, I-44100 FERRARA, ITALY
关键词
D O I
10.1006/geno.1997.4798
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
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. (C) 1997 Academic Press.
引用
收藏
页码:216 / 220
页数:5
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