本文選題：非綜合征型　切入點(diǎn)：遺傳性耳聾　出處：《新疆醫(yī)科大學(xué)》2010年碩士論文

【摘要】： 目的:利用基因診斷的方法對新疆維漢非綜合征型遺傳性耳聾患者GJB2基因突變進(jìn)行分析,研究新疆地區(qū)維漢非綜合征型遺傳性耳聾人群中GJB2基因突變位點(diǎn)、突變頻率,并探討其與腎虛血瘀型之間的關(guān)系。方法:收集非綜合征型遺傳性耳聾患者83例,其中耳聾組維族43例,漢族40例,并對耳聾患者中醫(yī)辨證分為腎虛血瘀型和非腎虛血瘀型;無耳聾家族史正常人98例,其中維族46例,漢族52例。應(yīng)用聚合酶鏈反應(yīng)(PCR)和正反雙向直接測序法對所有受試者進(jìn)行GJB2基因檢測。結(jié)果:在耳聾組發(fā)現(xiàn)10種堿基改變,其中致病突變4種(235delC、233delC、35delG、71G-A),攜帶率為10.8%,233-235delC突變共6例,突變率為7.23%,占致病突變總攜帶率的66.6%。35delG、71G-A突變僅在維族耳聾人群中發(fā)現(xiàn)。對照組檢測到9種基因堿基改變。79G-A、109G-A和341G-A是各組中常見的多態(tài)。196G-A、281A-G和21G-T為新發(fā)現(xiàn)突變。漢族GJB2基因的突變率高于維族。腎虛血瘀型患者占所有耳聾患者的38.6%;GJB2基因突變與腎虛血瘀型有關(guān)(P0.05)。結(jié)論:新疆地區(qū)非綜合征型遺傳性耳聾患者GJB2基因的致病突變熱點(diǎn)為233-235delC,但突變率低于國內(nèi)其它地區(qū)。GJB2基因突變具有種族差異性。新發(fā)現(xiàn)的突變和多態(tài)豐富了新疆GJB2基因突變及多態(tài)性圖譜,為深入開展新疆地區(qū)耳聾基因篩查及建立基因庫奠定了基礎(chǔ)。腎虛血瘀型可能是導(dǎo)致新疆地區(qū)GJB2基因突變的原因之一。
[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.
【學(xué)位授予單位】：新疆醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2010
【分類號】：R764

【引證文獻(xiàn)】

相關(guān)期刊論文 前1條

1 王喜文;林海波;曾小情;;我國人群GJB2基因235delC突變與非綜合征性耳聾相關(guān)性的meta分析[J];中國醫(yī)藥科學(xué);2013年15期

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本文編號：1721887