GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects
GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects
复制标题
中国北方受试者语前耳聋的 GJB2、SLC26A4 和线粒体 DNA A1555G 突变
DOI：
10.1080/00016480701767382
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发表时间：
2008-01-01
影响因子：
1.4
通讯作者：
Wang, Qiu-Ju
中科院分区：
文献类型：
--
作者：
Guo, Yu-Fen;Liu, Xiao-Wen;Wang, Qiu-Ju
结论本遗传流行病学研究表明，在北方语前聋患者中，26.65%的语前聋患者可以通过3种常见的听力损失基因（GJB 2、SLC 26 A4和mtDNA A1555 G）的基因检测在低龄时被发现，从而可以采取早期干预措施，帮助他们获得语言能力。目标. GJB 2、SLC 26 A4和mtDNA A1555 G突变是全世界语前聋的常见病因。许多研究表明，这三个基因的突变形式和频率在很大程度上取决于种族或地理起源。因此，本研究的目的是描述中国北方语前聋患者的三个基因的突变谱。子对象和方法。本文对514例语前聋患者和117例听力正常者进行了调查。应用双向测序（或酶消化）来鉴定序列变异。结果26.65%的患者存在GJB 2（9.14%）或SLC 26 A4（8.95%）两个突变等位基因（纯合子或复合杂合子）和/或mtDNA A1555 G（8.56%）突变。19.26%的患者携带GJB 2突变，其中10.12%为单突变携带者。235 delC是最常见的突变类型，占GJB 2所有突变体的69.18%。SLC 26 A4突变携带率为15.2%，其中单突变携带率为6.23%。最常见的两种类型（IVS 7 -2A > G和H723 R）分别占51.61%和33.06%。45例患者线粒体DNA A1555 G，频率为8.75%。在听力正常的对照组中，GJB 2、SLC 26 A4和mtDNA A1555 G的单一突变分别为2.56%、1.71%和0%。
Conclusion. This genetic epidemiological study demonstrated that 26.65% of the prelingual deafness in Northern Chinese patients can be detected at younger ages by genetic testing of three common hearing loss genes (GJB2, SLC26A4 and mtDNA A1555G), and thus, early intervention measures could be undertaken to help them in language acquisition. Objectives. The GJB2, SLC26A4 and mtDNA A1555G mutations are the prevalent causes of prelingual deafness worldwide. Numerous studies have revealed that the forms and frequencies of the mutations in the three genes are largely dependent on the ethnic or geographic origins. Hence, this study aimed to characterize the mutation profiles of the three genes in prelingual deafness in Northern Chinese patients. Subects and methods. An investigation of 514 patients with prelingual deafness and 117 controls with normal hearing was conducted. Bidirectional sequencing (or enzyme digestion) was applied to identify sequence variations. Results. This study revealed that 26.65% patients had two mutated alleles (homozygote or compound heterozygote) of GJB2 (9.14%) or SLC26A4 (8.95%) and/or an mtDNA A1555G (8.56%) mutation. In detail, 19.26% patients carried GJB2 mutations including 10.12% single mutant carriers. 235delC was the most common type, making up 69.18% of all mutants for GJB2. The mutant carrier rate for SLC26A4 was 15.2%, including 6.23% single mutant carriers. The two most common types (IVS7-2A > G and H723R) accounted for 51.61% and 33.06% mutations, respectively. Forty-five patients had mtDNA A1555G, giving a frequency of 8.75%. In the control group with normal hearing, 2.56%, 1.71% and 0% of the subjects carried a single mutant for GJB2, SLC26A4 and mtDNA A1555G, respectively.