论文部分内容阅读
目的 通过对1 个家系三代 Duchenne 肌营养不良( Duchenne muscular dystrophy , DMD )的基因变异进行分析,体现基因诊断对遗传咨询的意义.方法 利用多重连接探针扩增( multiplex ligation-dependent probeamplification , MLPA )技术对 Duchenne 肌营养不良先证者及其亲属进行基因检测.结果 第三代先证者基因检测结果:DMD 基因 DP427c、1 号外显子缺失变异;其同胞弟弟亦携带该基因,表弟基因检测无异常;第二代即先证者的母亲、姨妈及第一代即先证者姥姥基因检测结果:DMD 基因 DP427c、1 号外显子杂合缺失变异,均系致病基因携带者;先证者母亲在其2 个儿子确诊为 DMD 后,通过遗传咨询后曾两次妊娠,羊水脱落细胞检测显示为男性胎儿,均经过基因检测证实与先证者具有相同的基因缺失变异而选择终止妊娠.结论 DMD 基因 DP427c、1 号外显子缺失变异为致病性变异;受检者其母、姨及姥姥均为 DMD 基因 DP427c、1 号外显子杂合缺失变异,系致病基因携带者.基因检测是确诊Duchenne 肌营养不良的重要方法,有利于提高该病的诊断水平,早期进行遗传咨询及产前诊断,可降低后代患 Duchenne 肌营养不良的风险.“,”Objective By analyzing the genetic variability of Duchenne muscular dystrophy in three generations of a family , the significance of genetic diagnosis for genetic counseling is manifested . Methods Multiplex ligation-dependent probe amplification ( MLPA ) was used for genetic testing of prop-osituswith Duchenne muscular dystrophy and their relatives . Results The third generation : the propositus’s gene test result was DMD gene DP4 2 7 c , exon 1 deletion mutation . His younger brother also carries the same gene , and his cousin gene was detected without abnormalities . The second generation , namely propositus’s mother , aunt and the first generation , propositus’s grandmother , the gene test result was DMD gene DP4 2 7 c , exon 1 heterozygous deletion variation . All of them are pathogenic gene carriers with no clinical symptoms . After propositus and his younger brother were diagnosed with DMD , their mother had two pregnancies by genetic counseling , and the amniotic fluid shedding cells were detected as male fe-tuses . All of them had the same gene deletion mutation as the propositus and chose to terminate the preg-nancy . Conclusion DMD Gene DP4 2 7 c , exon 1 deletion variation is pathogenic variation . The mother , aunt and grandmother of the propositus are all DMD gene DP4 2 7 c , exon 1 deletion variation , and they are the carriers of the pathogenic gene . Genetic testing is an important method for diagnosing Duchenne muscular dystrophy , which is beneficial to improve the diagnostic level of the disease . Early genetic coun-seling and prenatal diagnosis can reduce the risk of Duchenne muscular dystrophy in offspring .