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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。
Objective To investigate the relationship between phenotype and dystrophin gene deletion in patients with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) in northeastern China. Methods Multiplex PCR was used to detect the deletion of dystrophin gene in 124 male patients with DMD (106 cases) and BMD (18 cases) from Northeast China. Thirty cases of high-risk fetus were treated with prenatal anti-dystrophin gene Missing detection. Results Among the 124 patients, the detection rate of anti-dystrophin gene deletion was 49% (61/124), of which 41 (41/61, 67%) were deleted in 45-53 exons / 61,21%) were deleted in exon 8 to 19, 5 cases (5 / 61,8%) were deleted in the two exon deletion regions, 2 cases (2 / 61,3%) The deletion was found in exons 34 and 43; nine patients with deletions had an entire-length deletion (BMD patients) and 49 patients had a frame-shifting mutation (DMD patients). Of 30 high-risk fetuses, 17 were male fetuses, of which 10 were anti-dystrophin gene deletion and deletion sites were the same as probands; 13 were female fetuses, none of them had a deletion of dystrophin gene. Conclusion DMD and BMD patients with dystrophin gene deletions are mainly located in two regions, near exon 8 may be the northeastern region of the high-frequency deletion of the gene; deletion type and clinical phenotype have a certain relationship, when the gene occurs When the code is missing, the clinical phenotype is BMD, whereas in the case of a frameshift mutation, the clinical phenotype is DMD.