Preimplantation Genetic Diagnosis for Beta Thalassemia
Publish place: Human Genetics and Genomics، Vol: 3، Issue: 1
Publish Year: 1397
نوع سند: مقاله ژورنالی
زبان: English
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شناسه ملی سند علمی:
JR_JHGG-3-1_007
تاریخ نمایه سازی: 30 مرداد 1401
Abstract:
Background: Beta thalassemia is an autosomal recessive genetic disease with the symptoms of severe anaemia, ineffective erythropoiesisand bone deformities. Preimplantation genetic diagnosis is a noninvasive clinical tool for couples who are at risk of affectedpregnancy to have a healthy child.Objectives: Herewereport aPGDtest for a couplewhowere heterozygous for CD۳۶/۳۷(-T) mutation inHBBgene and had terminatedone affected pregnancy.Methods: Haplotype analysis of ۶ flanking STR markers as well as variant detection by cycle sequencing were included in our PGDtest 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 ahealthy girl.
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Authors
Faravareh Khordadpoor Deilamani
Tehran Medical Genetics laboratory, Tehran, Iran
Mohammad Taghi Akbari
Tehran Medical Genetics laboratory, Tehran, Iran