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Birth of healthy children after preimplantation diagnosis of β‐thalassemia by whole‐genome amplification
Author(s) -
Jiao Zexu,
Zhou Canquan,
Li Jie,
Shu Yimin,
Liang Xiaoyan,
Zhang Mingfang,
Zhuang Guanglun
Publication year - 2003
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.659
Subject(s) - preimplantation genetic diagnosis , thalassemia , prenatal diagnosis , beta thalassemia , genetics , biology , genotype , mutation , population , gene , medicine , embryo , pregnancy , fetus , environmental health
Abstract Preimplantation genetic diagnosis (PGD) offers couples at risk for transmitting an inherited disorder the possibility to avoid the need to terminate affected pregnancies. PGD for monogenic diseases is most commonly accomplished by blastomere biopsy from cleavage‐stage embryos, followed by PCR‐based DNA analysis. However, the molecular heterogeneity of many monogenic diseases requires a diagnostic strategy capable of detecting a range of mutations and compound genotypes. With the above considerations, we developed an accurate and reliable strategy for analysis of β‐globin gene mutations, applicable for PGD for the wide spectrum of β‐thalassemia major mutations in the Chinese population. The strategy involves primer‐extension preamplification (PEP), followed by nested PCR and reverse dot blot (RDB) for mutation detection since it facilitates simultaneous analysis of more than one mutation in a single cell. This report describes the application of the strategy in two clinical IVF/PGD cycles at risk for transmitting β‐thalassemia major, which resulted in the first thalassemia‐free children born after PGD in China. Copyright © 2003 John Wiley & Sons, Ltd.