在一个来自巴基斯坦的近亲家族中，将一个新的常染色体隐性非综合征性听力障碍基因座（DFNB38）定位于6q26 - q27。
Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan.
作者信息
Ansar Muhammad, Ramzan Mohammad, Pham Thanh L, Yan Kai, Jamal Syed Muhammad, Haque Sayedul, Ahmad Wasim, Leal Suzanne M
机构信息
Department of Biological Sciences, Quaid-I-Azam University Islamabad, Pakistan.
出版信息
Hum Hered. 2003;55(1):71-4. doi: 10.1159/000071813.
Abstract
For autosomal recessive nonsyndromic hearing impairment over 30 loci have been mapped and 19 genes have been identified. DFNB38, a novel locus for autosomal recessive nonsyndromic hearing impairment, was localized in a consanguineous Pakistani kindred to 6q26-q27. The affected family members present with profound prelingual sensorineural hearing impairment and use sign language for communications. Linkage was established to microsatellite markers located on chromosome 6q26-q27 (Multipoint lod score 3.6). The genetic region for DFNB38 spans 10.1 cM according to the Marshfield genetic map and is bounded by markers D6S980 and D6S1719. This genetic region corresponds to 3.4 MB on the sequence-based physical map.
摘要
对于常染色体隐性非综合征性听力障碍，已有30多个基因座被定位，19个基因被识别。DFNB38是常染色体隐性非综合征性听力障碍的一个新基因座，在一个巴基斯坦近亲家族中被定位到6q26 - q27。受影响的家庭成员表现为严重的语前感音神经性听力障碍，并使用手语进行交流。与位于6号染色体q26 - q27上的微卫星标记建立了连锁关系（多点对数优势分数为3.6）。根据马什菲尔德遗传图谱，DFNB38的遗传区域跨度为10.1厘摩，由标记D6S980和D6S1719界定。该遗传区域在基于序列的物理图谱上对应3.4兆碱基。
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