摘要
本文报告了２１人次中期妊娠ＤＭＤ／ＢＭＤ风险胎儿羊膜腔穿刺产前基因诊断的研究结果，其中包括４人次非缺失突变型，３人次外显子８缺失突变型，３人次外显子１７缺失突变型，３人次外显子４５缺失突变型，５人次外显子４８缺失突变型，２人次外显子１９缺失突变型及１人次外显子４４缺失突变型ＤＭＤ风险胎儿的产前基因诊断。风险胎儿羊水细胞ＤＮＡ的产前基因诊断内容包括三部分，即（１）应用ＰＣＲ扩增Ｙ染色体上特异性片段所进行的胎儿性别鉴定（如ＳＲＹ基因）；（２）应用ＰＣＲ扩增特异性ＤＭＤ基因外显子所进行的男性胎儿ＤＭＤ缺乏突变分析及；（３）应用ＤＭＤ基因上或旁侧多态性位点所进行的确诊患者或携带者的连锁分析（如ＳＴＲ４９）。研究结果发现２１人次风险胎儿中男女胎儿分别为１３和８。１３个男性胎儿中，２个发生在非缺失突变ＤＭＤ家系，另外１１个发生在缺失突变ＤＭＤ家系，经ＤＭＤ基因ＳＴＲ４９－ＰＣＲ及缺失突变分析发现，９例为患病男胎；８例，女性胎儿中，经ＤＭＤ基因ＳＴＲ－ＰＣＲ４９连锁分析发现２例为患病女胎。临床上已采用中期妊娠引产术中止了这１１例患胎的妊娠，剩下已被确诊的１０例正常胎儿则继续妊娠至分娩，并获得预期健康的孩子。本研究结果提示?
We report here the results of 21 prenatal diagnosis of Duchenne muscular dystrophy/Becker muscular dystrophy from 4 non deletiontype mutation DMD families and 17 deletiontype mutation DMD families with deletion mutations involved in exons 8,17,19,44,45,48 of DMD gene respectively.Out of 21,we found 13 male fetuses and 8 female fetuses by the analysis of fetuses DNA from the amniocentesis with the SRY gene analysis for sexdetermination.Out of the 13 male fetuses,2 were present from non deletiontype mutation and the other 11 from deletiontype mutation DMD families.Further studies with the techniques of deletion mutation analysis involved in exons 8,17,19,44,45,48 of DMD gene,out of the 11 male fetuses from the deletiontype mutation DMD famlies,8 male fetuses were found to carry the deletion mutation and the other 3 male fetuses from deletiontype mutation DMD gene families were found to be normal without deletions.Induced miscarriages were used to stop the pregnancies of 11 fetuses including 9 male fetuses (8 from deletion mutation DMD families and 2 female fetuses),whereas the other 10 fetuses(including 6 female and 4 male)were kept to continue their pregnancies and thus we got 10 healthy babies.Our results suggest that the prenatal diagnosis of DMD gene with a procedure consisted of gender determination,deletion analysis,and STR 49PCR linkage analysis can successfully prevent both affected male and affected female fetuses from being born into the DMD families.
出处
《中国优生与遗传杂志》
1999年第3期13-16,26,共5页
Chinese Journal of Birth Health & Heredity
基金
广州市科委重点攻关项目
关键词
产前诊断
STR-PCR
假肥大型
肌营养不良
DMD gene,Prenatal diagnosis,Sexdetermination,STRPCR. (Original artical on page 13)
