A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21
A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21
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DOI：
10.1136/jmg.2004.020628
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发表时间：
2004-11-01
影响因子：
4
通讯作者：
Lesperance, MM
中科院分区：
文献类型：
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作者：
Kim, TB;Isaacson, B;Lesperance, MM
方法该家族是欧洲血统，并通过密歇根大学和加州大学欧文分校的两个不同的先证者确定。密歇根大学医学院、路易斯安那州立大学健康科学中心和加州大学欧文分校的机构审查委员会批准了本研究，并获得了所有受试者的知情同意书。四代人可用于研究，包括47名家庭成员，其中33人受到影响，4人是无关的配偶，10人未受影响（图1）。所有未受影响的成员至少18岁。两个人（六：9、六：13）具有与其性别和年龄一致的孤立性高频感音神经性听力损失，并且在连锁分析之前被表征为未受影响。资料来源于问卷调查和与家庭成员的访谈。对所有参与者进行标准纯音测听，并获得外周血或颊细胞样本。通过耳科和神经系统检查以及听力学、心理声学和神经生理学测试对表型进行了广泛表征。8 SLINK分析预测平均最大LOD评分为7.90，100%的重复样本大于3.0。九、十
METHODSThe family is of European descent and was ascertained through two different probands by both the University of Michigan and the University of California at Irvine. The Institutional Review Boards of the University of Michigan Medical School, Louisiana State University Health Sciences Center, and the University of California at Irvine approved the study, and informed consent was obtained from all subjects. Four generations were available for study, including 47 family members informative for genetic analysis of whom 33 were affected, four were unrelated spouses, and 10 were unaffected (fig 1). All unaffected members were at least 18 years old. Two individuals (VI: 9 and VI: 13) had isolated high frequency sensorineural hearing loss consistent with their sex and age and were characterised as unaffected prior to linkage analysis. Information was obtained from questionnaires and interviews with family members. Standard pure tone audiometry was performed for all participants, and peripheral blood or buccal cell samples were obtained. The phenotype was extensively characterised by otologic and neurologic examination and by audiological, psychoacoustic, and neurophysiological testing. 8 SLINK analysis predicted an average maximum LOD score of 7.90, with 100% of replicates greater than 3.0. 9, 10