50例面肩肱型肌营养不良症的基因诊断与临床特征

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1、万方数据主堡煎墅匿堂苤查至QQ鱼生!旦箜!鲞箜!塑堡塾垫!堕!坠塑坐!亟!旦!Y至QQ鱼：yQ!!，丛Q．150例面肩肱型肌营养不良症的基因诊断与临床特征苏全喜申本昌曾缨卢锡林谢有梅李婉仪张成【摘要】目的对面肩肱型肌营养不良症(FSHD)患者进行基因诊断并总结其临床特征，以提高FSHD的诊断水平。方法以p13E．11为探针用＆oRI—旧抚I双酶切的Southern杂交方法对50例FSHD患者进行基因诊断，并对其临床特征进行总结。结果50例FSHD患者的基因诊断结果为EcoRI+BfnI／P13E．1l片段大小介于10～33．5kb，平均(17．70±6．628)kb。家族遗传性患者符合

2、常染色体显性遗传特点。FSHD多在青少年期慢性起病，病情缓慢进展；选择性侵犯面肌、肩带肌和上臂肌，部分患者逐渐累及盆带肌和下肢肌肉，患肌常不对称受累；血清CK水平正常或轻中度增高，肌电图示肌源性损害，肌活检呈肌病特征。结论以p13E一1l为探针用EcoRI帽加I双酶切的Southern杂交方法可对FSHD患者进行基因诊断．识别FSHD的临床特征以及进行基因诊断可提高FSHD的诊断水平。【关键词】面肩肱型肌营养不良症；基因诊断；l临床特征【中图分类号】R746．2【文献标识码】A【文章编号】1671—8925(2006)07—709-004Genediagnosisandclinical

3、featuresoffacioscapulohumeralmusculardystrophySUQuan-xi+，SHENBen-chang,ZENGYing,LUXi-lin,XIEYou—mei,LIWan-yi．ZHANGCheng．+DepartmentofNeurology,FirstAffiliatedHospital,GuangdongCollegeofPharmacy,Guangzhou510084ChinaCorrespondingauthor：ZHANGtheng，Email．"czym@gzsums．edu．en【Abstract】0bjectiveToperfo

4、rmgenediagnosisandsummarizeclinicalfeaturesoffacioscapulohumeralmusculardystrophy(FSHD)inordertoimproveitsdiagnosis．MethodsGenomieDNAwasdigestedbyEcoRIandBlnIenzymes，andSouthernblottingwiththep13E一11probewasperformedin50casesofFSHDpatientswhocamefrom33unrelatedfamilies．Clinicalfeaturesofthesepat

5、ientsweresummarized．ResultsTheresultsofgenediagnosisin50casesofFSHDpatientsshowedthattheEcoRI-BlnI／p13E一11fragmentsizesofthesepatientsrangedfrom10to33．5kb(mean17．70±6．628kb)．FSHDisaslowlyprogressivemyopathyusuallyinheritedasanautosomaldominantdisorder．Itsonsetbeginsmainlyfromadolescenceanddevelo

6、pstoadulthood．Characteristicsofthediseasewerefoundtoincludeweaknessandatrophyofthefacial，shouldergirdleandupperarnqmuscles．Involvementsubsequentlyspreadtothepelvicgirdleandlowerlimbmusclesinsomepatients．Theinvolvementinmusclewasoftenasymmetric．Thelevelofserumcreatinekinasewasnormalorlightlyeleva

7、ted．Musclelesionswereobservedbyelectromyographyandmusclebiopsy．ConclusionItisfeasibletoperformgenediagnosisforFSHDbySouthernblottingcoupledwithEcoRI—BlnIdoubleenzymedigestion．RecognizingclinicalfeaturesofFSHDaswellasperformi