新型常染色体隐性非综合征性听力损失基因座DFNB90定位于7p22.1-p15.3。

Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.

作者信息

Ali Ghazanfar, Lee Kwanghyuk, Andrade Paula B, Basit Sulman, Santos-Cortez Regie Lyn P, Chen Leon, Jelani Musharraf, Ansar Muhammad, Ahmad Wasim, Leal Suzanne M

机构信息

Department of Biochemistry, Quaid-I-Azam University, Islamabad, Pakistan.

出版信息

Hum Hered. 2011;71(2):106-12. doi: 10.1159/000320154. Epub 2011 Jul 6.

DOI:10.1159/000320154

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3136383/

Abstract

A novel locus DFNB90 was mapped to 7p22.1-p15.3 by carrying out a genome scan in a multigenerational consanguineous family from Pakistan with autosomal recessive nonsyndromic hearing impairment (ARNSHI).DFNB90 is the eighth ARNSHI locus mapped to chromosome 7. A multipoint LOD score of 4.0 was obtained at a number of SNP marker loci spanning from rs1468996 (chromosome 7: 5.7 Mb) tors957960 (chromosome 7: 18.8 Mb). The 3-unit support interval and the region of homozygosity for DFNB90 spans from markers rs1553960 (chromosome 7: 4.9 Mb) to rs206198 (chromosome 7: 20.3 Mb). Candidate genes ACTB, BZW, OCM, MACC1, NXPH1, PRPS1L1, RAC1 and RPA3, which lie within the DFNB90 region, were sequenced and no potentially causal variants were identified.

摘要

通过对一个来自巴基斯坦的患有常染色体隐性非综合征性听力损失（ARNSHI）的多代近亲家庭进行全基因组扫描，一个新的基因座DFNB90被定位到7p22.1 - p15.3。DFNB90是第八个被定位到7号染色体的ARNSHI基因座。在跨越rs1468996（7号染色体：5.7 Mb）到rs957960（7号染色体：18.8 Mb）的多个单核苷酸多态性（SNP）标记位点处获得了4.0的多点对数优势分数（LOD）。DFNB90的3个单位支持区间和纯合区域跨度为从标记rs1553960（7号染色体：4.9 Mb）到rs206198（7号染色体：20.3 Mb）。对位于DFNB90区域内的候选基因ACTB、BZW、OCM、MACC1、NXPH1、PRPS1L1、RAC1和RPA3进行了测序，未发现潜在的致病变异。

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