Preimplantation Genetic Diagnosis for Beta Thalassemia

Faravareh Khordadpoor Deilamani, M. Akbari
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引用次数: 1

Abstract

Background: Beta thalassemia is an autosomal recessive genetic disease with the symptoms of severe anaemia, ineffective erythropoiesis and bone deformities. Preimplantation genetic diagnosis is a noninvasive clinical tool for couples who are at risk of affected pregnancy to have a healthy child. Objectives: Here we report a PGD test for a couple who were heterozygous for CD36/37(-T) mutation in HBB gene and had terminated one affected pregnancy. Methods: Haplotype analysis of 6 flanking STR markers as well as variant detection by cycle sequencing were included in our PGD test in order to investigate the status of the embryos reliably. Results: Three out of five embryos were transferable. Conclusions: One normal and one carrier embryo were transferred which resulted in the singleton pregnancy and the birth of a healthy girl.
β地中海贫血的胚胎植入前遗传学诊断
背景:地中海贫血是一种常染色体隐性遗传病,以严重贫血、红细胞生成功能低下和骨骼畸形为症状。胚胎植入前遗传学诊断是一种无创的临床工具,用于有受影响怀孕风险的夫妇生育健康的孩子。目的:在这里,我们报告了一对HBB基因CD36/37(-T)突变杂合的夫妇的PGD检测,并终止了一个受影响的妊娠。方法:PGD检测包括6个侧翼STR标记的单倍型分析和循环测序的变异检测,以可靠地了解胚胎的状态。结果:5个胚胎中有3个是可移植的。结论:移植1个正常胚和1个载体胚,成功实现单胎妊娠,生下健康女婴。
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