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Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1

Beiraghi, Soraya
Nath, S. K.
Gaines, Matthew
Mandhyan, D. D.
Hutchings, David
Ratnamala, Uppala
McElreavey, Ken
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Published in American Journal of Human Genetics. 2007, vol. 81, no. 1, p. 180-188
Abstract Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital facial defects, with an incidence of 1 in 700-1,000 live births among individuals of European descent. Several linkage and association studies of NSCL/P have suggested numerous candidate genes and genomic regions. A genomewide linkage analysis of a large multigenerational family (UR410) with NSCL/P was performed using a single-nucleotide-polymorphism array. Nonparametric linkage (NPL) analysis provided significant evidence of linkage for marker rs728683 on chromosome 18q21.1 (NPL=43.33 and P=.000061; nonparametric LOD=3.97 and P=.00001). Parametric linkage analysis with a dominant mode of inheritance and reduced penetrance resulted in a maximum LOD score of 3.61 at position 47.4 Mb on chromosome 18q21.1. Haplotype analysis with informative crossovers defined a 5.7-Mb genomic region spanned by proximal marker rs1824683 (42,403,918 bp) and distal marker rs768206 (48,132,862 bp). Thus, a novel genomic region on 18q21.1 was identified that most likely harbors a high-risk variant for NSCL/P in this family; we propose to name this locus "OFC11" (orofacial cleft 11).
Keywords Chromosomes, Human, Pair 18/ geneticsCleft Lip/ geneticsCleft Palate/ geneticsGenomicsHumansLinkage (Genetics)Lod ScorePedigreePolymorphism, Genetic
PMID: 17564975
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BEIRAGHI, Soraya et al. Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1. In: American Journal of Human Genetics, 2007, vol. 81, n° 1, p. 180-188. https://archive-ouverte.unige.ch/unige:8632

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Deposited on : 2010-07-12

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