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Scientific article
English

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

Published inAmerican journal of human genetics, vol. 60, no. 3, p. 597-604
Publication date1997
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 Mapping
  • Chromosomes, Human, Pair 7
  • Dna
  • Female
  • Genes, Dominant
  • Humans
  • Linkage (Genetics)
  • Male
  • Pedigree
  • Polydactyly/ genetics/radiography
  • Polymorphism, Genetic
Citation (ISO format)
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.
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ISSN of the journal0002-9297
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