一种隐性非综合征性感音神经性耳聋（DFNB18）基因定位于11p14 - p15.1染色体区域，该区域包含1型Usher综合征C基因。

A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.

作者信息

Jain P K, Lalwani A K, Li X C, Singleton T L, Smith T N, Chen A, Deshmukh D, Verma I C, Smith R J, Wilcox E R

机构信息

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850-3227, USA.

出版信息

Genomics. 1998 Jun 1;50(2):290-2. doi: 10.1006/geno.1998.5320.

DOI:10.1006/geno.1998.5320

PMID:9653658

Abstract

Autosomal recessive nonsyndromic sensorineural deafness segregating in a large consanguineous Indian family was mapped to chromosome 11p14-p15.1 defining a new locus, DFNB18. A maximum lod score of 4.4 at theta = 0 was obtained for the polymorphic micro-satellite marker D11S1888. Haplotype analysis localizes this gene between markers D11S1307 and D11S2368, which is approximately 1.6 cM and encompasses the region of Usher syndrome type 1C (USH1C). We postulate that DFNB18 and USH1C are allelic variants of the same gene.

摘要

在一个大型近亲结婚的印度家庭中分离出的常染色体隐性非综合征性感音神经性耳聋被定位到11号染色体p14 - p15.1，确定了一个新的基因座DFNB18。多态性微卫星标记D11S1888在θ = 0时获得了最大对数优势分数4.4。单倍型分析将该基因定位在标记D11S1307和D11S2368之间，该区域约为1.6厘摩，包含1型Usher综合征（USH1C）区域。我们推测DFNB18和USH1C是同一基因的等位变体。