假肥大型进行性肌营养不良120例疑诊患者的基因诊断  

Genetic Diagnosis of 120 Suspected Cases with Duchenne/Becker Muscular Dystrophy

作　　者：贺静[1] 朱宝生[1] 唐新华[1] 李利[2] 郑淑芳[3] 陈红[1] 苏洁[1] 章印红[1] 李秀玲[1] 

机构地区：[1]云南省第一人民医院遗传诊断中心,云南省出生缺陷与遗传病研究重点实验室,昆明650032 [2]云南省第一人民医院儿科,昆明650032 [3]昆明市儿童医院神经内科,昆明650032

出　　处：《实用儿科临床杂志》2011年第8期566-568,共3页Journal of Applied Clinical Pediatrics

基　　金：云南省“十一·五”社会发展计划项目(2007CA008);云南省高层次科技人才培引工程项目(20080C009)

摘　　要：目的对120例假肥大型进行性肌营养不良（DMD/BMD）疑诊患者进行基因诊断,探讨云南人群DMD基因的缺失分布特点。方法应用多重PCR法对2004年1月-2010年3月在本院遗传诊断中心门诊就诊的120例疑诊患者（均为男性;就诊年龄1个月~14岁）的DMD基因常见缺失的18个外显子进行检测,按缺失位点分析DMD患者的缺失分布情况。结果在120例疑诊患者中检出61例DMD基因存在缺失,缺失发生在DMD基因5′端者占总例数的18.97%,缺失发生在基因中央区域者占81.03%。在未检出缺失的59例疑诊患者中,32例通过临床回访,其中24例按临床表现及相关检查临床诊断为DMD,另8例不符合DMD诊断。另有27例失访或不能明确为DMD。结论云南人群中DMD基因外显子的缺失主要集中于DMD基因中央区域。对DMD疑诊患者DMD基因缺失检测后进行临床回访的临床诊疗具有重要意义。Objective Genetic diagnosis of 120 cases of suspected Duchenne/Becker muscular dystrophy(DMD/BMD) were carried out to investigate the distribution of DMD gene deletion within populations in Yunnan province.Methods Multiplex polymerase chain reaction(mPCR) was applied for deletion analysis of 18 exons of DMD gene with higher deletion frequency in 120 cases of suspected DMD/BMD(male,aged from 1 month to 14 years) who visited the Genetic Diagnosis Center of the First People′s Hospital of Yunnan Province from Jan.2004 to Mar.2010.Distribution of DMD gene exon deletion was summarized consequently.Results Sixty-one of 120 cases had detected DMD exon deletions.Further analysis showed that 18.97% of gene exon deletions located in 5′-flanking region,81.03% located in central region.Thirty-two cases of 59 cases who had not been detected exon deletion were subjected to follow-up.Among them,24 cases were diagnosed as DMD according to clinical manifestation and laboratory data,DMD could be excluded for the rest 8 cases.Furthermore,27 cases of 59 cases who had not been detected exon deletion were unavailable for follow-up or could not be diagnosed as DMD.Conclusion Exon deletion occurred mostly in the central region of DMD gene within populations in Yunnan province.Clinical follow-up plays an important role in clinical diagnosis of suspected cases of DMD/BMD after genetic test.

关 键 词：假肥大型进行性肌营养不良 基因 缺失 

分 类 号：R746.2[医药卫生—神经病学与精神病学]