一种先天性隐性耳聋基因DFNB3定位于17号染色体的着丝粒周围区域。

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

作者信息

Friedman T B, Liang Y, Weber J L, Hinnant J T, Barber T D, Winata S, Arhya I N, Asher J H

机构信息

Graduate Program in Genetics, Michigan State University, East Lansing 48824-1115.

出版信息

Nat Genet. 1995 Jan;9(1):86-91. doi: 10.1038/ng0195-86.

DOI:10.1038/ng0195-86

PMID:7704031

Abstract

Two percent of the residents of Bengkala, Bali, have profound, congenital, neurosensory, nonsyndromal deafness due to an autosomal recessive mutation at the DFNB3 locus. We have employed a direct genome-wide disequilibrium search strategy, allele-frequency-dependent homozygosity mapping (AHM), and an analysis of historical recombinants to map DFNB3 and position the locus relative to flanking markers. DFNB3 maps to chromosome 17, closest to D17S261, pRM7-GT and D17S805. In individuals homozygous for DFNB3, historical recombinant genotypes for the flanking markers, D17S122 and D17S783, place DFNB3 in a 5.3 cM interval of the pericentromeric region of chromosome 17 on a refined linkage map of 17p-17q12. Based on conserved synteny, the murine sh2 gene may be the homologue of DFNB3.

摘要

巴厘岛邦卡纳拉2%的居民因DFNB3位点的常染色体隐性突变而患有严重的先天性神经感觉性非综合征性耳聋。我们采用了全基因组直接不平衡搜索策略、等位基因频率依赖性纯合性定位（AHM）以及对历史重组体的分析来定位DFNB3，并将该位点相对于侧翼标记进行定位。DFNB3定位于17号染色体，最接近D17S261、pRM7 - GT和D17S805。在DFNB3纯合个体中，侧翼标记D17S122和D17S783的历史重组基因型将DFNB3定位在17号染色体着丝粒周围区域的一个5.3厘摩区间内，该区间位于17p - 17q12的精细连锁图谱上。基于保守的同线性，小鼠sh2基因可能是DFNB3的同源物。