广州地区非综合征性聋儿家庭的耳聋基因诊断研究

发布时间：2018-11-05 10:20

【摘要】：目的:应用耳聋基因芯片结合基因测序法对非综合征性聋儿进行分子病因学研究。方法:收集该地区门诊散发的双侧均为中至极重度非综合征型耳聋家系35个,包括35例聋儿和72例家属,签署知情同意书并填写耳聋调查问卷。抽取外周静脉血运用耳聋基因芯片检测中国人群中常见的4个耳聋基因的9个突变位点,用测序法对6例颞骨CT证实为前庭水管扩大者(enlarged vestibular aqueduct,EVA)及其父母进行SLC26A4全基因序列筛查。结果:35例聋儿中检出常见耳聋基因突变13例,突变率37.1%,其中GJB2基因235delC纯合突变2例、杂合突变2例,299delAT杂合突变1例;线粒体12S rRNA A1555G均质型突变型1例;SLC26A4基因IVS7-2 AG杂合突变5例;双杂合突变2例:GJB2 235delC/IVS7-2AG和IVS7-2AG/mtDNA A1555G。6例EVA患儿SLC26A4基因全序列筛查发现1例1229CT纯合突变,5例双杂合突变。结论:基因芯片法结合基因测序法能进一步明确患儿的分子致病机制及其遗传方式,为已生育聋儿的家庭再生育提供遗传咨询和产前指导。
[Abstract]:Objective: to study the molecular etiology of non-syndromic deaf children by using deafness gene chip and gene sequencing. Methods: 35 families with moderate to very severe non-syndromic deafness, including 35 deaf children and 72 family members, were collected from the outpatient clinic to sign the informed consent form and fill out the questionnaire on deafness. Peripheral venous blood was extracted to detect 9 mutation sites of 4 deafness genes in Chinese population by using deafness gene chip. (enlarged vestibular aqueduct, was confirmed as vestibular aqueduct enlargement in 6 cases of temporal bone CT by sequencing. EVA) and their parents were screened for SLC26A4 gene sequence. Results: 13 cases of common deafness gene mutation were detected in 35 deaf children, the mutation rate was 37.1g, including 2 cases of homozygous mutation of GJB2 gene 235delC, 2 cases of heterozygosity mutation, 1 case of 299delAT heterozygosity mutation, 1 case of mitochondrial 12S rRNA A1555G homotypic mutation type, 1 case of mitochondrial 12S rRNA A1555G homozygous mutation. There were 5 cases of IVS7-2 AG heterozygosity mutation in SLC26A4 gene, 2 cases of double heterozygous mutation, 1 case of 1229CT homozygous mutation and 5 cases of double heterozygous mutation in SLC26A4 gene of GJB2 235delC/IVS7-2AG and IVS7-2AG/mtDNA A1555G.6. Conclusion: the gene chip method combined with gene sequencing method can further clarify the molecular pathogenesis and genetic pattern of children, and provide genetic advice and prenatal guidance for families with deaf children who have already given birth to children with deafness.
【作者单位】：广东省广州市人口和计划生育技术服务指导所;广州市黄埔区中医院检验科;
【基金】：广东省人口和计划生育委员会科研资助项目〔2012231〕
【分类号】：R764.43

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