Tariq Aamira, Santos Regie Lyn P, Khan Mohammad Nasim, Lee Kwanghyuk, Hassan Muhammad Jawad, Ahmad Wasim, Leal Suzanne M
Department of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
J Mol Med (Berl). 2006 Jun;84(6):484-90. doi: 10.1007/s00109-005-0023-3. Epub 2006 May 4.
Autosomal recessive nonsyndromic hearing impairment (ARNSHI) is the most frequent form of prelingual hereditary hearing loss in humans. Between 75 and 80% of all nonsyndromic deafness is inherited in an autosomal recessive pattern. Using linkage analysis, we have mapped a novel gene responsible for this form of nonsyndromic hearing impairment, DFNB65, in a consanguineous family from the Azad Jammu and Kashmir regions, which border Pakistan and India. A maximum multipoint LOD score of 3.3 was obtained at marker D20S840. The three-unit support interval is contained between markers D20S902 and D20S430, while the region of homozygosity is flanked by markers D20S480 and D20S430. The novel locus maps to a 10.5-cM region on chromosome 20q13.2-q13.32 and corresponds to a physical map distance of 4.3 Mb. DFNB65 represents the first ARNSHI locus to map to chromosome 20.
常染色体隐性非综合征性听力障碍(ARNSHI)是人类最常见的语前遗传性听力损失形式。所有非综合征性耳聋中,75%至80%是按常染色体隐性模式遗传的。通过连锁分析,我们在一个来自与巴基斯坦和印度接壤的阿扎德查谟和克什米尔地区的近亲家庭中,定位了一个导致这种非综合征性听力障碍的新基因DFNB65。在标记D20S840处获得了最大多点LOD分数3.3。三个单位的支持区间包含在标记D20S902和D20S430之间,而纯合区域两侧是标记D20S480和D20S430。这个新位点定位于20号染色体q13.2 - q13.32上一个10.5厘摩的区域,对应物理图谱距离为4.3兆碱基。DFNB65是第一个定位于20号染色体的ARNSHI位点。