Linkage and linkage disequilibrium searched for between non-syndromic cleft palate and four candidate loci

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Linkage and linkage disequilibrium searched for between non-syndromic cleft palate and four candidate loci.

Cleft palate (CP) is one of the most common congenital malformations. It can occur as part of a recognisable syndrome, associated with other malformations or, most commonly, be non-syndromic (CPO) (MIM 119540). The birth prevalence of CPO varies between and among populations but it is seen world wide. The highest incidence has been found in Finland, 1.01 per 1000 livebirths. Within Finland, the...

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LETTER TO JMG Linkage and linkage disequilibrium searched for between non-syndromic cleft palate and four candidate loci

Cleft palate (CP) is one of the most common congenital malformations. It can occur as part of a recognisable syndrome, associated with other malformations or, most commonly, be non-syndromic (CPO) (MIM 119540). The birth prevalence of CPO varies between and among populations but it is seen world wide. The highest incidence has been found in Finland, 1.01 per 1000 livebirths. Within Finland, the...

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Linkage disequilibrium between loci with unknown phase.

Linkage disequilibrium is often measured by two statistics, D and r, which can be interpreted as the covariance and the correlation between loci and across gametes. When data consist of diploid genotypes, however, gametes cannot be identified. A variety of iterative statistical methods are used in such cases, all of which assume random mating. Previous work has shown that D and r can be express...

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Linkage disequilibrium between single nucleotide polymorphisms and hypermutable loci

Some diseases are caused by genetic loci with a high rate of change, and heritability in complex traits is likely to be partially caused by variation at these loci. These hypermutable elements, such as tandem repeats, change at rates that are orders of magnitude higher than the rates at which most single nucleotides mutate. However, single nucleotide polymorphisms, or SNPs, are currently the pr...

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Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results.

OBJECTIVES Non-syndromic orofacial clefts, i.e. cleft lip (CL) and cleft palate (CP), are among the most common birth defects. The goal of this study was to identify genomic regions and genes for CL with or without CP (CL/P). METHODS We performed linkage analyses of a 10 cM genome scan in 820 multiplex CL/P families (6,565 individuals). Significant linkage results were followed by association...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 2003

ISSN: 1468-6244

DOI: 10.1136/jmg.40.6.464