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Preimplantation genetic haplotyping for six Chinese pedigrees with thalassemia using a single nucleotide polymorphism microarray 期刊论文

编号：

3119d54a-b777-4574-bb0a-66c7864540d2
作者：

Liu, Xu^[1,2,3,4] Xu, Yanwen^[5,6] Sun, Jishan^[4] Zhang, Zheng^[7] Wang, Jing^[5,6] Ding, Chenhui^[5,6] Zheng, S. Lilly^[3,4] Xu, Jianfeng^[1,2,3,4,8] Zhou, Canquan^[5,6]
语种：

English
期刊：

PRENATAL DIAGNOSIS ISSN：0197-3851 2017 年 37 卷 5 期 (460 - 468) ; MAY
收录：
摘要：

ObjectiveThe objective of this study is to demonstrate the accuracy and feasibility of using single nucleotide polymorphism (SNP) array-based preimplantation genetic haplotyping (PGH) in Chinese population, as the currently short tandem repeat method is labor-intensive and time-consuming. MethodSix pedigrees with thalassemia who underwent preimplantation genetic diagnosis in the First Affiliated Hospital of Sun Yat-sen University in China were included in this study. In vitro fertilization (IVF) cycles and embryo biopsies were performed in clinics. All embryos were diagnosed using both a polymerase chain reaction-based method with short tandem repeat and an SNP-based PGH (SNP microarray) method blindly. ResultsSNP-based PGH was successfully conducted for six pedigrees. Our result was concordant with the initial diagnosis based on the mutation detection (96.4%) and human leukocyte antigen matching (100%). All of the embryos detected to be suitable for IVF with PGH were also diagnosed as suitable using initial methods. ConclusionThis simple SNP-based PGH method offers simultaneous haplotyping and human leukocyte antigen matching, which facilitates the determination of optimal embryos for IVF with high accuracy. Further studies are needed to help improve this method into clinic utility. (c) 2017 John Wiley & Sons, Ltd.
推荐引用方式
GB/T 7714：

Liu Xu,Xu Yanwen,Sun Jishan, et al. Preimplantation genetic haplotyping for six Chinese pedigrees with thalassemia using a single nucleotide polymorphism microarray [J].PRENATAL DIAGNOSIS,2017,37(5):460-468.
APA：

Liu Xu,Xu Yanwen,Sun Jishan,Zhang Zheng,&Zhou Canquan.(2017).Preimplantation genetic haplotyping for six Chinese pedigrees with thalassemia using a single nucleotide polymorphism microarray .PRENATAL DIAGNOSIS,37(5):460-468.
MLA：

Liu Xu, et al. "Preimplantation genetic haplotyping for six Chinese pedigrees with thalassemia using a single nucleotide polymorphism microarray" .PRENATAL DIAGNOSIS 37,5(2017):460-468.

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