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。

关键词: 肌营养不良, 杜氏, 植入前诊断, 随访研究

Abstract:

Objective  To carry out preimplantation genetic diagnosis (PGD) for Duchenne muscular dystrophy (DMD) carrier, so as to prevent the birth of affected infants with DMD.  Methods  One DMD 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 displacement amplification (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 for over 3 years.  Results  The 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 the allele dropout rate was 18.75% (18/96). Three unaffected embryos were transferred, resulting in twin pregnancy. 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 birth were normal. During the 3-year follow-up, both 2 infants were normal in growth and development, motor function and dynamic monitor of serum creatine kinase (CK).  Conclusions  Preimplantation genetic diagnosis can help DMD gene carrier give birth to healthy infants, and these infants have normal development.

Key words: Muscular dystrophy, Duchenne, Preimplantation diagnosis, Follow-up studies