中国α地中海贫血的植入前基因诊断
Preimplantation genetic diagnosis for alpha-thalassaemia in China.
作者信息
Xu Yan-Wen, Zeng Yan-Hong, Deng Jie, Liu Ying, Gao Ling, Zhou Can-Quan, Zhuang Guang-Lun
机构信息
Reproductive Medical Center, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
出版信息
J Assist Reprod Genet. 2009 Jul;26(7):399-403. doi: 10.1007/s10815-009-9336-4. Epub 2009 Oct 8.
PURPOSE
To report the usage of PGD for alpha-thalassaemia with the - -(SEA) genotype.
METHOD
A PGD protocol using fluorescent gap PCR was performed for 51 cycles on 43 couples with the - -(SEA) genotype. Allele drop-out and amplification failure rates were retrospectively analyzed.
RESULTS
A total of 472 embryos were biopsied. Amplification was achieved in 390 blastomeres, accounting for an amplification rate of 82.6%. In total, 120 wild-type, 94 heterozygotes and 140 homozygous mutant embryos were diagnosed. The successful diagnosis rate was 75.0%. The ADO rate in 49 blastomeres from six donated embryos was 16.4%. One hundred and fifty four embryos were transferred, resulting in 25 clinical pregnancies with an implantation rate of 24.0%.
CONCLUSIONS
Single-round fluorescent gap PCR is a feasible and effective strategy in the PGD for alpha-thalassaemia with the - -(SEA) genotype.
目的
报告植入前基因诊断（PGD）用于--(SEA)基因型α地中海贫血的情况。
方法
对43对--(SEA)基因型夫妇采用荧光缺口PCR的PGD方案进行51个循环。回顾性分析等位基因脱扣和扩增失败率。
结果
共活检472个胚胎。390个卵裂球实现扩增，扩增率为82.6%。共诊断出120个野生型、94个杂合子和140个纯合突变胚胎。成功诊断率为75.0%。来自6个捐赠胚胎的49个卵裂球的等位基因脱扣率为16.4%。移植154个胚胎，临床妊娠25例，种植率为24.0%。
结论
单轮荧光缺口PCR是用于--(SEA)基因型α地中海贫血PGD的一种可行且有效的策略。
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