Detection of mutations in genes associated with hearing loss using a microarray-based approach
Detection of mutations in genes associated with hearing loss using a microarray-based approach
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DOI：
10.2353/jmoldx.2006.050147
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发表时间：
2006-09-01
影响因子：
4.1
通讯作者：
Dahl, Hans-Henrik M.
中科院分区：
文献类型：
--
作者：
Siemering, Kirby;Manji, Shehnaaz S. M.;Dahl, Hans-Henrik M.
了解一个人听力损失的病因对咨询和管理病情有影响。超过50%的早发性、非综合征性感音神经性听力损失病例可归因于遗传因素。然而，耳聋是一种遗传异质性疾病，因此目前在所有已知的耳聋基因中筛查突变在经济上和实践上都不可行。我们已经开发了一种基于微阵列的杂交生物芯片检测已知的突变。目前版本的听力损失生物芯片检测连接蛋白26基因中的9个常见突变，pendrin基因中的4个突变，usherin基因中的1个突变和线粒体DNA中的1个突变。该生物芯片使用来自250名患有明显的非综合征，中度至重度感音神经性听力损失的人的DNA进行验证。听力损失生物芯片以100%的准确率检测到它所设计的突变。未观察到假阳性或假阴性结果。生物芯片可以很容易地扩展到测试与听力障碍或其他遗传条件相关的基因中的其他突变。
Knowing the etiology of hearing loss in a person has implications for counseling and management of the condition. More than 50% of cases of early onset, nonsyndromic sensorineural hearing loss are attributable to genetic factors. However, deafness is a genetically heterogeneous condition and it is therefore currently not economically and practically feasible to screen for mutations in all known deafness genes. We have developed a microarray-based hybridization biochip assay for the detection of known mutations. The current version of the hearing loss biochip detects nine common mutations in the connexin 26 gene, four mutations in the pendrin gene, one mutation in the usherin gene, and one mutation in mitochondrial DNA. The biochip was validated using DNA from 250 people with apparent nonsyndromic, moderate to profound sensorineural hearing loss. The hearing loss biochip detected with 100% accuracy the mutations it was designed for. No false-positives or false-negative results were seen. The biochip can easily be expanded to test for additional mutations in genes associated with hearing impairment or other genetic conditions.