新疆维汉NSHL GJB2基因突变及其与肾虚血瘀型的相关性研究

发布时间：2018-04-08 13:38

本文选题：非综合征型　切入点：遗传性耳聋　出处：《新疆医科大学》2010年硕士论文

【摘要】： 目的:利用基因诊断的方法对新疆维汉非综合征型遗传性耳聋患者GJB2基因突变进行分析,研究新疆地区维汉非综合征型遗传性耳聋人群中GJB2基因突变位点、突变频率,并探讨其与肾虚血瘀型之间的关系。方法:收集非综合征型遗传性耳聋患者83例,其中耳聋组维族43例,汉族40例,并对耳聋患者中医辨证分为肾虚血瘀型和非肾虚血瘀型;无耳聋家族史正常人98例,其中维族46例,汉族52例。应用聚合酶链反应(PCR)和正反双向直接测序法对所有受试者进行GJB2基因检测。结果:在耳聋组发现10种碱基改变,其中致病突变4种(235delC、233delC、35delG、71G-A),携带率为10.8%,233-235delC突变共6例,突变率为7.23%,占致病突变总携带率的66.6%。35delG、71G-A突变仅在维族耳聋人群中发现。对照组检测到9种基因碱基改变。79G-A、109G-A和341G-A是各组中常见的多态。196G-A、281A-G和21G-T为新发现突变。汉族GJB2基因的突变率高于维族。肾虚血瘀型患者占所有耳聋患者的38.6%;GJB2基因突变与肾虚血瘀型有关(P0.05)。结论:新疆地区非综合征型遗传性耳聋患者GJB2基因的致病突变热点为233-235delC,但突变率低于国内其它地区。GJB2基因突变具有种族差异性。新发现的突变和多态丰富了新疆GJB2基因突变及多态性图谱,为深入开展新疆地区耳聋基因筛查及建立基因库奠定了基础。肾虚血瘀型可能是导致新疆地区GJB2基因突变的原因之一。
[Abstract]:Objective: to analyze the mutation of GJB2 gene in Uyghan non-syndromic hereditary deafness patients in Xinjiang by gene diagnosis, and to study the mutation site and frequency of GJB2 gene in Uighur Han non-syndromic hereditary deafness population in Xinjiang.And to explore the relationship between it and kidney deficiency and blood stasis type.Methods: 83 cases of non-syndromic hereditary deafness were collected, including 43 cases of Uygur and 40 cases of Han nationality in deafness group, and the TCM syndrome differentiation of deafness patients was divided into kidney deficiency and blood stasis type and non-kidney deficiency and blood stasis type, 98 cases of normal persons without family history of deafness.There were 46 cases in Uygur nationality and 52 cases in Han nationality.Polymerase chain reaction (PCR) and reverse-directional direct sequencing were used to detect GJB2 gene in all subjects.In the control group, 9 kinds of gene base changes. 79G-An 109G-A and 341G-A were the common polymorphic. 196G-Agn281A-G and 21G-T were the newly discovered mutations.The mutation rate of GJB2 gene in Han nationality was higher than that in Uygur nationality.The mutation of GJB2 gene in all deafness patients with kidney deficiency and blood stasis was related to P0.05 of kidney deficiency and blood stasis.Conclusion: the hot spot of GJB2 gene mutation in non-syndromic hereditary deafness patients in Xinjiang is 233-235delC, but the mutation rate is lower than that in other regions of China.The newly discovered mutations and polymorphisms enrich the map of mutation and polymorphism of GJB2 gene in Xinjiang and lay a foundation for further screening of deafness genes and the establishment of gene bank in Xinjiang.Kidney deficiency and blood stasis may be one of the causes of GJB2 gene mutation in Xinjiang.
【学位授予单位】：新疆医科大学
【学位级别】：硕士
【学位授予年份】：2010
【分类号】：R764

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