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)

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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Centromere*
  • Child
  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast
  • Chromosomes, Human, Pair 13*
  • Cochlea / metabolism
  • Connexin 26
  • Connexins
  • DNA Primers
  • Deafness / genetics*
  • Gene Library
  • Humans
  • Mice
  • Molecular Sequence Data
  • Muscular Dystrophies / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Sequence Tagged Sites
  • Tubulin / genetics*

Substances

  • Connexins
  • DNA Primers
  • GJB2 protein, human
  • Tubulin
  • Connexin 26