通过植入前遗传单倍型分析扩展并改善单个胚胎细胞检测服务
Expanding and Improving the Service for Testing Single Embryonic Cells by Preimplantation Genetic Haplotyping.
作者信息
López Sara Ocaña, Renwick Pamela
机构信息
Pharmacist in Laboratory training in Fundación Hospital Alcorcón. Madrid. Spain.
Deputy Director of the Regional DNA Laboratory Genetics Centre, Guy's Hospital, London.
出版信息
EJIFCC. 2007 Dec 21;18(4):126-129. eCollection 2007 Dec.
Abstract
The problem of having offspring with inherited diseases can be resolved in some cases through preimplantation genetic diagnosis (PGD). Spinal Muscular Atrophy (SMA) is one of these diseases. In my short term visit to Guy's Hospital in London, I set up a panel of markers which can be used for preimplantion genetic haplotyping in affected families with this pathology.
摘要
在某些情况下，通过植入前基因诊断（PGD）可以解决患有遗传性疾病后代的问题。脊髓性肌萎缩症（SMA）就是这类疾病之一。在我短期访问伦敦盖伊医院期间，我建立了一组标记物，可用于患有这种疾病的家庭进行植入前基因单倍型分析。
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