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A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C).

作者信息

Guilford P, Dodé C, Crozet F, Blanchard S, Chaïb H, Levilliers J, Levi-Acobas F, Weil D, Weissenbach J, Cohen D

机构信息

Unité de Génétique Moléculaire Humaine, URA CNRS 1968, Institut Pasteur, Paris, France.

出版信息

Genomics. 1995 Sep 1;29(1):163-9. doi: 10.1006/geno.1995.1227.

DOI:10.1006/geno.1995.1227
PMID:8530067
Abstract

Two forms of inherited childhood nonsyndromic deafness (DFNB1 and DFNA3) and a Duchenne-like form of progressive muscular dystrophy (LGMD2C) have been mapped to the pericentromeric region of chromosome 13. To clone the genes responsible for these diseases we constructed a yeast artificial chromosome (YAC) contig spanning an 8-cM region between the polymorphic markers D13S175 and D13S221. The contig comprises 24 sequence-tagged sites, among which 15 were newly obtained. This contig allowed us to order the polymorphic markers centromere-D13S175-D13S141-D13S143-D13S115-AF M128yc1-D13S292-D13S283-AFM323vh5- D13S221-telomere. Eight expressed sequence tags, previously assigned to 13q11-q12 (D13S182E, D13S183E, D13S502E, D13S504E, D13S505E, D13S837E, TUBA2, ATP1AL1), were localized on the YAC contig. YAC screening of a cDNA library derived from mouse cochlea allowed us to identify an alpha-tubulin gene (TUBA2) that was subsequently precisely mapped within the candidate region.

摘要

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