Duchenne型肌营养不良症胚胎植入前遗传学诊断及随访研究  

Study on preimplantation genetic diagnosis and follow-up for Duchenne muscular dystrophy

作　　者：杨娟[1,2] 谢惠芳[2] 操基清[1,3] 郑卉[4] 周灿权[5] 刘振华[2] 朱瑜龄[1] 詹益鑫[6] 沈晓婷[5] 李亚勤[1] 张成[1] 

机构地区：[1]中山大学附属第一医院神经科,广州510080 [2]南方医科大学珠江医院神经内科,邮政编码510282 [3]湖北省武汉市中心医院神经内科,邮政编码430014 [4]南方医科大学南方医院神经内科,广州510515 [5]中山大学附属第一医院生殖医学中心,广州510080 [6]广州金域医学检验中心有限公司,510330

出　　处：《中国现代神经疾病杂志》2015年第6期458-463,共6页Chinese Journal of Contemporary Neurology and Neurosurgery

基　　金：国家自然科学基金-广东省联合基金重点资助项目(项目编号:U1032004);国家自然科学基金资助项目(项目编号:81471280);国家自然科学基金资助项目(项目编号:81271401);国家科技支撑计划项目(项目编号:2012BAI09B04);广东省科技计划项目(项目编号:2011A030400006)~~

摘　　要：目的对DMD基因携带者行胚胎植入前遗传学诊断,以阻断患儿的出生。方法对1例DMD基因第10～30号外显子缺失突变的女性携带者行卵泡质内单精子显微注射授精,采用多重置换扩增技术行全基因组扩增,并行DMD基因检测和单倍体型分析。选择健康优质胚胎移植入子宫,分别于孕中期和分娩时进行遗传学检测,并进行为期3年的随访。结果携带者第2个胚胎植入前遗传学诊断周期获得成功,共获得7个胚胎共14个单卵裂球,多重置换扩增成功率为13/14,等位基因脱扣率为18.75%（18/96）。移植3个健康优质胚胎并获双胎妊娠,孕16周时采集羊水行基因检测未见DMD基因突变,孕35周时行剖宫产生产1名正常男婴和1名正常女婴,外周血基因检测结果与胚胎植入前遗传学诊断和孕中期产前诊断结果一致。随访3年,幼儿生长发育、运动功能和动态血清肌酸激酶水平均正常。结论经胚胎植入前遗传学诊断出生的正常婴儿生长发育良好。Objective To carry out preimplantation genetic diagnosis（PGD） for Duchennemuscular dystrophy（DMD） carrier, so as to prevent the birth of affected infants with DMD.MethodsOneDMD gene carrier with a deletion of exon 10-30 received fertilization with intracytoplasmic sperm injection（ICSI）. DMD gene and haplotype were tested after amplification of genome DNA in multiple displacementamplification（MDA）, then healthy embryos were transferred to uterus according to the genetic results.Genetic testing was made in second trimester and after delivery, and also periodic follow-up was made forover 3 years.ResultsThe second cycle of PGD was successful, and a total of 14 single blastomeres obtained from 7 embryos were used for genetic analysis. The success rate of MDA was 13/14, and theallele dropout rate was 18.75%（18/96）. Three unaffected embryos were transferred, resulting in twinpregnancy. One healthy boy and one healthy girl were born in cesarean section at the pregnant week of 35.Genetic results on DNA from both amniotic fluid at 16 weeks of gestation and peripheral blood after birthwere normal. During the 3-year follow-up, both 2 infants were normal in growth and development, motorfunction and dynamic monitor of serum creatine kinase（CK）.ConclusionsPreimplantation geneticdiagnosis can help DMD gene carrier give birth to healthy infants, and these infants have normal development.

关 键 词：肌营养不良 杜氏 植入前诊断 随访研究 

分 类 号：R714.5[医药卫生—妇产科学]