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Title

Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis

Authors
Radhakrishna, U.
Mehenni, H.
Patel, U. C.
Patel, M. N.
Solanki, J. V.
Published in American Journal of Human Genetics. 1997, vol. 60, no. 3, p. 597-604
Abstract Postaxial polydactyly type-A (PAP-A) in humans is an autosomal dominant trait characterized by an extra digit in the ulnar and/or fibular side of the upper and/or lower extremities. The extra digit is well formed and articulates with the fifth, or extra, metacarpal/metatarsal, and thus it is usually functional. In order to map the gene responsible for PAP-A, we studied a five-generation Indian family of 37 individuals (15 of whom were affected). A genomewide search with highly informative polymorphic markers on part of the pedigree showed linkage between the PAP-A phenotype and markers on chromosome 7p15-q11.23 (no crossovers were found with D7S526, D7S795, D7S528, D7S521, D7S691, D7S667, D7S478, D7S1830, D7S803, D7S801, or ELN). The highest LOD score was obtained with marker D7S801 (zeta max = 4.21; theta = 0). Haplotype analysis enabled the mapping of the PAP-A phenotype in this family between markers D7S2848 and D7S669. Analysis of additional families with PAP-A will narrow down the critical genomic region, facilitate positional cloning of the PAP-A gene, and/or uncover potential genetic heterogeneity.
Keywords Chromosome MappingChromosomes, Human, Pair 7DnaFemaleGenes, DominantHumansLinkage (Genetics)MalePedigreePolydactyly/ genetics/radiographyPolymorphism, Genetic
Identifiers
PMID: 9042919
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RADHAKRISHNA, U. et al. Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis. In: American Journal of Human Genetics, 1997, vol. 60, n° 3, p. 597-604. https://archive-ouverte.unige.ch/unige:8977

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Deposited on : 2010-07-12

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