遺傳性共濟(jì)失調(diào)3型及7型家系基因突變分析.pdf

1、新疆醫(yī)科大學(xué)碩士學(xué)位論文遺傳性共濟(jì)失調(diào)3型及7型家系基因突變分析姓名：于佳申請學(xué)位級別：碩士專業(yè)：神經(jīng)病學(xué)指導(dǎo)教師：張小寧201003新疆醫(yī)科大學(xué)醫(yī)學(xué)碩士學(xué)位論文—2—AnalysisonthegenemutationofSCA3SCA7intwoSCAsfamiliesPostgraduate:YuJiaSupervis:ZhangXiaoningprofessAbstractObjective：Toinvestigatethecli

2、nicalmanifestationthegenemutationacteristicsoftwoSCAsfamiliesfromXinjiang.Methods：Weexaminedthreepatientsninefamilies’membersoftwoSCAsfamiliesfromXinjiang.Polymerasechainreactioncapillaryelectrophesestechniquemolecularcl

3、oningsequencingwereperfmedtodetectSCA3SCA7geneintwoSCAfamilies.TheexpedallelesfragmentsweresubclonedintothepGEMTplasssequencedsequencingwasusedtodetectSCA7genein40HuiChinesecontrols.Results：AnSCA3HanChinesefamilyanSCA7Hu

4、iChinesefamilywereconfirmedbymoleculartechnique.FtheSCA3family，theprobhad43CAGrepeatsatMJDlocus.Hehadtwosonswith4164repeatsintheexpedallelerespectively.FtheSCA7family，molecularanalysisdemonstratedpathologicalexpansionsin

5、theSCA7gene，withdetectionof46repeatsintheexpedalleleoftheprob’sfather.The46repeatsgotexpansionto54repeatsinpaternaltransmissionwithmarkedanticipationofapproximately22years.Threealleleswerefoundbysequencinginthe40HuiChine

6、sehealthpersons.Themostcommonallelewas10repeatsthefrequencywas90%inthecontrols.Conclusion：1.A43repeatsalleleatMJDlocuswasunstableuponintergenerationaltransmission.ThechangeoftheCAGrepeatswasbidirectional.Thisistheshteste

7、xpedalleleassociatedwithadiseasephenotypeintheMJDgenereptedtodate.TheidentificationoftheMJDfamilyhasreducedtheamplitudebetweennmalexpedallelerepeats.2.TheSCA7familywasthefirstSCA7HuiChinesefamilyrepted.Retinaldegeneratio