| Simplified PGD of common determinants of haemoglobin Bart's hydrops fetalis syndrome using multiplex-microsatellite PCR. | |
| | |
MedLine Citation:
|
PMID: 20864413 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
|
The high incidence of double-gene deletions in α-thalassaemia increases the risk of having pregnancies with homozygous α(0)-thalassaemia, the cause of the lethal haemoglobin (Hb) Bart's hydrops fetalis syndrome. Preimplantation genetic diagnosis (PGD) has played an important role in preventing such cases. However, the current gap-PCR based PGD protocol for deletional α-thalassaemia requires specific primer design for each specific deletion. A universal PGD assay applicable to all common deletional determinants of Hb Bart's hydrops fetalis syndrome has been developed. Microsatellite markers 16PTEL05 and 16PTEL06 within the α-globin gene cluster were co-amplified with a third microsatellite marker outside the affected region in a multiplex-PCR reaction and analysed by capillary electrophoresis. Eight informed couples at risk of having Hb Bart's hydrops fetalis were recruited in this study and all patients underwent standard procedures associated with IVF. A total of 47 embryos were analysed. Three pregnancies were achieved from three couples, with the births of two healthy babies and one ongoing pregnancy. This work has successfully adapted an earlier protocol and developed a simple and reliable single-cell assay applicable to PGD of Hb Bart's hydrops fetalis syndrome regardless of type of deletion. Alpha-thalassaemia is one of the most common inheritable disorders worldwide. It is a blood disorder that, in its lethal form caused by deletion of all four copies of the α-globin gene, results in the demise of the affected fetus, a condition referred to as haemoglobin (Hb) Bart's hydrops fetalis syndrome. Preimplantation genetic diagnosis (PGD) has played an important role in preventing such cases. Current PGD protocols for deletional α-thalassaemia utilize a strategy called gap-PCR, which requires the different assays for different deletion types. We have developed a universal PGD assay applicable to all common deletional determinants of Hb Bart's hydrops fetalis syndrome based on microsatellite marker analysis. Eight informed couples at risk of having Hb Bart's hydrops fetalis were recruited in this study and all patients underwent standard procedures associated with IVF. Forty-five embryos were analysed in total. Three pregnancies were achieved from three couples, with the births of two healthy babies and one pregnancy still ongoing. We have successfully adapted our earlier protocol and developed a simple and reliable single cell assay applicable to PGD of Hb Bart's hydrops fetalis syndrome regardless of the type of deletion. |
| | |
Authors:
|
Wen Wang; Christine H A Yap; Seong Feei Loh; Arnold S C Tan; Mui Nee Lim; Ethiraj B Prasath; Melinda L H Chan; Wei Chin Tan; Boran Jiang; Gare Hoon Yeo; Joyce Mathew; Angela Ho; Sherry S Y Ho; Peng Cheang Wong; Mahesh A Choolani; Samuel S Chong |
Related Documents
:
|
1612213 - Roberts/pseudothalidomide syndrome and normal intelligence: approaches to diagnosis and... 15948183 - The new wolf-hirschhorn syndrome critical region (whscr-2): a description of a second c... 3518573 - Electroconvulsive therapy and lateralized affective systems. |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-06-19 |
Journal Detail:
|
Title: Reproductive biomedicine online Volume: 21 ISSN: 1472-6491 ISO Abbreviation: Reprod. Biomed. Online Publication Date: 2010 Nov |
Date Detail:
|
Created Date: 2010-11-01 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 101122473 Medline TA: Reprod Biomed Online Country: Netherlands |
Other Details:
|
Languages: eng Pagination: 642-8 Citation Subset: IM |
Copyright Information:
|
Copyright © 2010 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved. |
Affiliation:
|
Preimplantation Genetic Diagnosis Center, University Children's Medical Institute, Department of Pediatrics, Yong Loo Lin School of Medicine, National University Health System, Singapore 119074, Singapore. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Single nucleotide polymorphisms in the anti-Müllerian hormone signalling pathway do not determine h...
Next Document: Polymorphisms of nucleotide-excision repair genes may contribute to sperm DNA fragmentation and male...