运用全染色体探针FISH技术进行罗伯逊易位携带者胚胎植入前诊断

目的运用全染色体探针荧光原位杂交技术(fluorescent in situ hybridization ,FISH)对14/21罗伯逊易位携带者的胚胎进行植入前遗传学诊断,达到优生目的.方法应用FITC、Texas标记的21/14全染色体探针对14/21罗伯逊易位携带者的胚胎活检后的单个卵裂球进行遗传学检测,选择正常信号或携带者信号核型胚胎进行移植.结果常规单精子显微注射-胚胎移植(intracytoplasmic sperm injection,ICSI)后获取胚胎12个,活检优质胚胎11个,杂交后有信号胚胎7个,其中1个正常胚胎,1个携带者胚胎;1个14单体胚胎,1个21单体胚胎,1个21三体胚胎,另2个胚胎活检后均为21号二体,无14号信号.结论运用14/21全染色体探针荧光原位杂交技术对14/21罗伯逊易位携带者的胚胎进行植入前遗传学诊断是能够将正常核型胚胎挑选出来进行移植,从而达到优生目的.

Preimplantion genetic diagnosis with whole chromosome probes on patients who is Robertsonian translocation carrier

Objective: Preimplantation genetic diagnosis (PGD) by fluorescent in situ hybridization (FISH) with whole chromosome probes on the woman who is 14/21 Robertsonian translocation carrier. Methods: The embryos of woman who is 14/21 Robertsonian translocation carrier were biopsied and performed FISH with 14/21 whole chromosome probes (marked by Texas Red and FITC). The embryos with normal chromosome number were picked out for transfer. Results: 12 embryos were got after routine intracytoplasmic sperm injection (ICSI), 11 of them were good embryos. All of the 11 embryos were biopsied and performed FISH.Signals were found in 5 embryos .1 was normal,1 was Robertsonian translocation carrier ,both of them were transferred ;2 embryos were trisomy 21 and no 14 signals were found. Conclusion: Preimplantation genetic diagnosis (PGD) by fluorescent in situ hybridization (FISH) on women who is 14/21 robertsonian translocation carrier is practicable, and necessary.