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Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment.

机译:改进了DFNA10基因座的定位和两个其他相关家族,以解决非综合征性听力障碍。

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摘要

DFNA10 originally was mapped to the long arm of chromosome 6 in a large American family segregating for autosomal dominant progressive nonsyndromic hearing impairment. By extending this American family, we have reduced the original DFNA10 candidate region from 13 cM to 3.7 cM. We also report a Belgian family with autosomal dominant nonsyndromic hearing impairment linked to DFNA10 and a Norwegian family with the same condition in which linkage is suggestive, although maximum lod scores are only 2.5. The hearing phenotype in all three DFNA10 families is similar, with losses beginning in the middle frequencies and involving the low and high frequencies later in life.
机译:DFNA10最初被映射到一个大的美国家庭中的6号染色体的长臂上,该染色体因常染色体显性遗传进行性非综合征性听力障碍而被隔离。通过扩展这个美国家庭,我们将原始DFNA10候选区域从13 cM减少到3.7 cM。我们还报告了一个比利时家庭,其与DFNA10相关的常染色体显性非综合征性听力障碍,以及挪威家庭具有相同的状况,提示存在连锁关系,尽管最大lod得分仅为2.5。在所有三个DFNA10家族中,听力表型都是相似的,其损失从中频开始,并在生活的晚些时候涉及低频和高频。

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