Preimplantation Genetic Diagnosis Center, Department of Obstetrics and Gynaecology, Faculty of Medicine, Chiang Mai University, 110 Intawaroros Road, Sripoom, Mueang, Chiang Mai, 50200, Thailand.
J Assist Reprod Genet. 2012 Jan;29(1):95-102. doi: 10.1007/s10815-011-9641-6. Epub 2011 Oct 1.
Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis (PND) giving couples at risk a chance to start a pregnancy with a disease-free baby. This study aimed to develop a new PGD protocol for alpha-thalassemia(-SEA) mutation, the commonest Mendelian disorder.
Multiplex fluorescent PCR was employed for mutation, contamination and linkage analysis. A couple experienced termination of pregnancy following positive PND decided to join the project.
Novel primers for alpha-thalassemia(-SEA) mutation amplifying 5 DNA fragments were developed. Two PGD cycles were performed, resulting in an un-affected baby. PND confirmed the heterozygous result. From 24 embryos, 87.5% of affected genotype were of best quality compared to 0% and 18.2% of those with normal and heterozygous, respectively.
A novel PCR protocol for the common alpha-thalassemia(-SEA) mutation is reported. This test should be widely applicable. Interestingly, a potential effect of alpha-thalassemia(-SEA) mutation on preimplantation embryonic development was noticed.
植入前遗传学诊断（PGD）是一种替代产前诊断（PND）的方法，为有风险的夫妇提供了一个机会，让他们能够怀上一个没有疾病的婴儿。本研究旨在为最常见的孟德尔疾病--缺失型α-地中海贫血（-SEA）突变，开发一种新的 PGD 方案。
采用多重荧光 PCR 进行突变、污染和连锁分析。一对夫妇在 PND 阳性后决定终止妊娠，并决定参与该项目。
开发了用于缺失型α-地中海贫血（-SEA）突变扩增 5 个 DNA 片段的新型引物。进行了两个 PGD 周期，最终生下了一个未受影响的婴儿。PND 证实了杂合子的结果。在 24 个胚胎中，87.5%的受影响基因型的胚胎质量最好，而正常和杂合子的胚胎质量分别为 0%和 18.2%。
报道了一种用于常见缺失型α-地中海贫血（-SEA）突变的新型 PCR 方案。该检测方法应该具有广泛的适用性。有趣的是，我们注意到缺失型α-地中海贫血（-SEA）突变对胚胎植入前发育可能有潜在影响。
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