SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct.
SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct.
复制标题
中国非综合征性前庭导水管扩大患者SLC26A4基因拷贝数变异
DOI：
10.1186/1479-5876-10-82
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发表时间：
2012-05-02
影响因子：
7.4
通讯作者：
Dai P
中科院分区：
文献类型：
--
作者：
Zhao J;Yuan Y;Chen J;Huang S;Wang G;Han D;Dai P
背景
许多前庭导水管扩大 (EVA) 患者要么只有一个 SLC26A4 基因等位基因突变体，要么缺乏任何可检测到的突变。在本研究中，多重连接依赖性探针扩增（MLPA）用于筛选SLC26A4的拷贝数变异（CNV）并揭示非综合征性EVA（NSEVA）的致病机制。
方法
2003年1月至2010年3月期间，招募了923名中国NSEVA患者（481名男性，442名女性）。其中，68名患者（7.4%）被发现仅携带SLC26A4的一种突变等位基因，39名患者（4.2%）没有检测到任何SLC26A4突变；这107名没有双突变等位基因的患者被分配到患者组。 SALSA MLPA 检测到 SLC26A4 中可能的拷贝数变异。
结果
使用 GeneMapper，与测定中提供的标准探针相比，各组之间没有观察到显着差异。毛细管电泳结果显示患者和对照之间没有显着差异。
结论
我们的结果表明，CNV 和 SLC26A4 中的外显子缺失并不是 NSEVA 的重要因素。然而，现在断定 CNV 在 EVA 中没有作用还为时过早。有必要进行全基因组研究来探索 SLC26A4 基因非编码区域和邻近区域内的 CNV，以阐明它们在 NSEVA 病因学中的作用。
Background
Many patients with enlarged vestibular aqueduct (EVA) have either only one allelic mutant of the SLC26A4 gene or lack any detectable mutation. In this study, multiplex ligation-dependent probe amplification (MLPA) was used to screen for copy number variations (CNVs) of SLC26A4 and to reveal the pathogenic mechanisms of non-syndromic EVA (NSEVA).
Methods
Between January 2003 and March 2010, 923 Chinese patients (481 males, 442 females) with NSEVA were recruited. Among these, 68 patients (7.4%) were found to carry only one mutant allele of SLC26A4 and 39 patients (4.2%) lacked any detectable mutation in SLC26A4; these 107 patients without double mutant alleles were assigned to the patient group. Possible copy number variations in SLC26A4 were detected by SALSA MLPA.
Results
Using GeneMapper, no significant difference was observed between the groups, as compared with the standard probe provided in the assay. The results of the capillary electrophoresis showed no significant difference between the patients and controls.
Conclusion
Our results suggest that CNVs and the exon deletion in SLC26A4 are not important factors in NSEVA. However, it would be premature to conclude that CNVs have no role in EVA. Genome-wide studies to explore CNVs within non-coding regions of the SLC26A4 gene and neighboring regions are warranted, to elucidate their roles in NSEVA etiology.
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影响因子：
64.8
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通讯作者：
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