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 (α = 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, P.F. (1997). Evidence of linkage to 6p23 and genetic heterogeneity in nonsyndromic cleft lip with or without cleft palate. GENOMICS, 43(2), 216-220 [10.1006/geno.1997.4798].
Evidence of linkage to 6p23 and genetic heterogeneity in nonsyndromic cleft lip with or without cleft palate
Scapoli LPrimo
Conceptualization
;Pezzetti F;Martinelli MMethodology
;Carinci P;
1997
Abstract
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 (α = 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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.