Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21

Genome Res. 1997 Sep;7(9):879-86. doi: 10.1101/gr.7.9.879.

Abstract

DFNB7 and DFNB11, two loci for autosomal recessive nonsyndromic hearing loss (ARNSHL), have been mapped to chromosome 9q13-21 in separate consanguineous families. Using a radiation hybrid map, we have determined the correct marker order in the DFNB7/11 region and have demonstrated that the DFNB11 locus resides within a redefined DFNB7 interval. The gene(s) responsible for ARNSHL at these loci resides within an approximately 1 cM interval bounded by markers D9S1806 (centromeric) and D9S769 (telomeric). A recently discovered Indian family confirms the new telomeric boundary. To assist in the identification and cloning of candidate genes, YAC and PAC contigs were constructed. A total of 19 YAC and 23 PAC clones were utilized to span the affected region and ensure double coverage throughout. Twenty-two previously published STSs and 21 new STSs were used to determine marker order and confirm the integrity of the contig. Using a positional cloning strategy we have identified three cochlear expressed genes that map to the DFNB7/11 interval.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosome Mapping*
  • Chromosomes, Artificial, Yeast
  • Chromosomes, Human, Pair 9 / ultrastructure*
  • Consanguinity
  • Female
  • Gene Expression*
  • Genetic Markers
  • Genotype
  • Hearing Loss, Bilateral / congenital
  • Hearing Loss, Bilateral / genetics*
  • Homozygote
  • Humans
  • Male
  • Pedigree
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Sequence Tagged Sites

Substances

  • Genetic Markers