【摘要】 目的探讨我国东北地区杜氏型肌营养不良症(DMD)及贝克型肌营养不良症(BMD)患者抗肌营养不良蛋白基因缺失类型分布与表型的关系,并用于产前基因诊断。方法采用多重PCR法检测124例来自东北地区的DMD(106例)及BMD(18例)男性患者的抗肌营养不良蛋白基因缺失情况,并对30例高危胎儿行产前抗肌营养不良蛋白基因缺失检测。结果124例患者中,抗肌营养不良蛋白基因缺失检出率为49%(61/124),其中41例(41/61,67%)缺失分布于外显子45~53,13例(13/61,21%)缺失分布于外显子8~19,5例(5/61,8%)在上述两个外显子缺失区内均有缺失,2例(2/61,3%)缺失分布于外显子34和43;缺失型患者中有9例发生整码缺失(为BMD患者),49例发生移码突变(为DMD患者)。30例高危胎儿中,17例为男性胎儿,其中10例为抗肌营养不良蛋白基因缺失型,缺失位点与先证者相同;13例为女性胎儿,无一例抗肌营养不良蛋白基因缺失。结论DMD及BMD患者抗肌营养不良蛋白基因缺失主要分布于两个区域,外显子8附近区域可能是东北地区该基因缺失高发区;缺失类型与临床表型有一定的关系,当基因发生整码缺失时,临床表型为BMD,而发生移码突变时,临床表型为DMD。更多还原

【Abstract】 Objective To detect the distribution characteristics of dystrophin gene deletions in the northeastern of China and the relationship of severity with type of deletion. Methods To screen deletion distribution of 124 DMD/BMD patients via multiplex PCR, male high-risk fetuses were detected deletion by the same method. Results The deletion frequency was 49%. Deletions located in the regions of exons 45-53 and exons 8-19 were 41(67%)and 13(21%) cases respectively,and in 5(8%)cases deletions were scattered over both regions,still 2 cases (3%)were checked up deletions lying in exons 34 and 43; there were 9 cases of in-frame deletions and 49 frameshift mutations in all deletions; of 30 high-risk fetuses 10 male ones were screened deletions, who had the same deletion-segments as their probands. Conclusions The distribution of dystrophin gene deletions in the northeastern of China cluster mainly in two hot-spots,neighboring regions of exon 8 might be a real deletion “hot spot” in this region; the phenotype is associated with the type of gene deletion, the phenotype is BMD when in-frame deletions occur; severe DMD when frameshift mutations occur. Multiplex PCR method provides the short-cuts for detecting patients and making prenatal gene diagnosis.更多还原