Mapping One Form of Autosomal Dominant Postaxial Polydactyly Type A to Chromosome 7p15-q11.23 by Linkage Analysis

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1997 Mar 1

PMID 9042919

Citations 17

Authors

U Radhakrishna

J L Blouin

H Mehenni

U C Patel

M N Patel

J V Solanki

S E Antonarakis

Affiliations

Soon will be listed here.

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.

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