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对β-地中海贫血携带者进行胚胎植入前遗传学诊断
作者姓名:Jiao ZX  Zhuang GL  Zhou CQ  Shu YM  Liang XY  Li J  Zhang MF  Deng MF
作者单位:510080,广州,中山大学附属第一医院妇产科生殖医学研究中心
摘    要:目的 探讨对β-地中海贫血进行胚胎植入前遗传学诊断的方法。方法 对4例β-地中海贫血携带者进行超排卵和体外受精-胚胎移植治疗,胚胎活检后应用全基因组扩增技术,巢式-PCR及反向点杂交进行胚胎植入前遗传学诊断,根据诊断结果选择健康的胚胎移植入子宫。结果 4例患者共获卵97个,受精率为83%,可供活检的胚胎47个,总扩增效率为84.8%。平均等位基因脱扣发生率为14.9%。共移植10个健康胚胎,获得1例三胎妊娠(其中1个为空囊),现已分娩健康双胎。结论 对β-地中海贫血进行植入前遗传学诊断可使β-地中海贫血患者实现生育健康后代的愿望,达到优生的目的。

关 键 词:β-地中海贫血  胚胎植入  遗传学诊断
修稿时间:2002年10月9日

Preimplantation genetic diagnosis for beta-thalassemia
Jiao ZX,Zhuang GL,Zhou CQ,Shu YM,Liang XY,Li J,Zhang MF,Deng MF.Preimplantation genetic diagnosis for beta-thalassemia[J].National Medical Journal of China,2003,83(4):298-301.
Authors:Jiao Ze-xu  Zhuang Guan-lun  Zhou Can-quan  Shu Yi-min  Liang Xiao-yan  Li Jie  Zhang Min-fang  Deng Ming-fen
Institution:Reproductive Medical Center, First Affiliated Hospital of Sun Yet-sen University, Guangzhou 510080, China.
Abstract:OBJECTIVE: To investigate the effect of in vitro fertilization and embryo transfer (IVF-ET) and preimplantation genetic diagnosis (PGD) for the couples at risk of having children with beta-thalassemia. METHODS: Four couples carrying different thalassemia mutations received standard IVF treatment. Embryo biopsy was conducted. Single blastomeres were genotyped by a protocol involving primer extension preamplification, nested polymerase chain reaction and reverse dot-blot analysis. Only the unaffected embryos were transferred to the uterus. RESULTS: A total of 97 oocytes were retrieved from the four female carriers. Among them, 83% showed two pronuclei. Embryo biopsy was performed on 47 of these embryos. The amplification efficiency was 84.8%. The average ADO rate was 14.9%. Ten unaffected embryos were transferred. A twin pregnancy with one blighted ovum was confirmed at 7 weeks' gestation by ultrasonography and one normal baby and one carrier of thalassemia mutation were born finally. CONCLUSION: This unaffected pregnancy resulting from PGD for beta-thalassemia demonstrates that PGD technique can be a powerful diagnostic tool for couples carrying beta-thalassemia mutations who desire a healthy child and wish to avoid abortion of an affected fetus.
Keywords:Preimplantation diagnosis  Genetics  Gene amplification  beta-Thalassemia
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