Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region

Asher Berry, Hamish S. Scott, Jun Kudoh, Ilana Talior, Michael Korostishevsky, Marie Wattenhofer, Michel Guipponi, Christine Barras, Colette Rossier, Kazunori Shibuya, Jun Wang, Kazuhiko Kawasaki, Shuichi Asakawa, Shinsei Minoshima, Nobuyoshi Shimizu, Stylianos Antonarakis, Batsheva Bonné-Tamir

研究成果: Article査読

20 被引用数 (Scopus)

抄録

An autosomal recessive nonsyndromic deafness locus, DFNB10, was previously localized to a 12-cM region near the telomere of chromosome 21 (21q22.3). This locus was discovered in a large, consanguineous Palestinian family. We have identified and ordered a total of 50 polymorphic microsatellite markers in 21q22.3, comprising 16 published and 34 new markers, precisely mapped and ordered on BAC/cosmid contigs. Using these microsatellite markers, the locus for DFNB10 has been refined to an area of less than 1 Mb between markers 1016E7.CA60 and 1151C12.GT45. Six previously published cDNAs were mapped to this critical region, and their genomic structures were determined to facilitate mutation analysis in DFNB10. All six genes in this region (in order from centromere to telomere: White/ABCG1, TFF3, TFF2, TFF1, PDE9A, and NDUVF3) have been screened and eliminated as candidates for DFNB10. The new microsatellite markers and single nucleotide polymorphisms identified in this study should enable the refined mapping of other genetic diseases that map to 21q22.3. In addition, the critical region for DFNB10 has been reduced to a size amenable to an intensive positional cloning effort. (C) 2000 Academic Press.

本文言語English
ページ(範囲)22-29
ページ数8
ジャーナルGenomics
68
1
DOI
出版ステータスPublished - 2000 8 15

ASJC Scopus subject areas

  • 遺伝学

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