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第二个患有常染色体隐性非综合征性听力损失的中东家族与DFNB9相关。

A second middle eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9.

作者信息

Leal S M, Apaydin F, Barnwell C, Iber M, Kandogan T, Pfister M, Braendle U, Cura O, Schwalb M, Zenner H P, Vitale E

机构信息

Laboratory of Statistical Genetics, Rockefeller University, New York, USA.

出版信息

Eur J Hum Genet. 1998 Jul-Aug;6(4):341-4. doi: 10.1038/sj.ejhg.5200201.

DOI:10.1038/sj.ejhg.5200201
PMID:9781041
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6141006/
Abstract

A second kindred has been identified which supports the previously reported location of DFNB9. Linkage has been established to markers closely linked to DFNB9 which is located on 2p22-p23. The hearing impaired individuals in this highly consanguineous kindred from Eastern Turkey have prelingual profound hearing loss which affects all frequencies. A genetic map of the 2p22-p23 region where DFNB9 resides was generated using marker genotypes available from the CEPH database. All markers were placed on this genetic map using a likelihood ratio criterion of 1000:1. This map suggests that the region for DFNB9 is less than 1.08 cM, 95% confidence interval (0-2.59 cM).

摘要

已鉴定出第二个家系，其支持先前报道的DFNB9的定位。已建立与紧密连锁于位于2p22 - p23的DFNB9的标记的连锁关系。来自土耳其东部这个高度近亲家系中的听力受损个体存在语前重度听力损失，影响所有频率。利用从CEPH数据库获得的标记基因型构建了DFNB9所在的2p22 - p23区域的遗传图谱。所有标记均使用1000:1的似然比标准定位在该遗传图谱上。该图谱表明DFNB9所在区域小于1.08厘摩，95%置信区间为(0 - 2.59厘摩)。

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本文引用的文献

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