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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 To investigate the genetic distribution of DMD / BMD in 120 suspected mastodysplasia patients and to investigate the distribution of DMD gene deletion in Yunnan population. Methods A total of 120 suspected DMD patients (all male; age from 1 months to 14 years old) who were diagnosed in the genetic diagnosis center of our hospital from January 2004 to March 2010 were detected by multiplex PCR. Exons were detected by deletion sites analysis of the distribution of DMD patients. Results There were 61 cases of DMD gene deletion in 120 suspected cases. The deletion accounted for 18.97% of the total cases in the 5 ’end of DMD gene and 81.03% in the central region of the gene. Among the 59 suspected cases without any deletion, 32 cases passed the clinical follow-up. Among them, 24 cases were clinically diagnosed as DMD according to the clinical manifestations and related tests, and the other 8 cases did not meet the diagnosis of DMD. Another 27 patients lost or can not be clearly identified as DMD. Conclusion The exon deletion of DMD gene in Yunnan population mainly concentrates in the central region of DMD gene. The clinical diagnosis and treatment of DMD gene deletion in DMD suspected patients is of great significance.