Preimplantation genetic haplotyping for six Chinese pedigrees with thalassemia using a single nucleotide polymorphism microarray. (27th March 2017)

• Record Type: Journal Article
• Authors: Liu, Xu; Xu, Yanwen; Sun, Jishan; Zhang, Zheng; Wang, Jing; Ding, Chenhui; Zheng, S. Lilly; Xu, Jianfeng; Zhou, Canquan
• Is Part Of: Prenatal diagnosis. Volume 37:Number 5(2017)
• Page Start: 460
• Page End: 468
• Publication Date: 2017-03-27
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.5033
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract: Objective: The 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. Method: Six 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. Results: SNP‐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. Conclusion: This 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. © 2017 John Wiley & Sons, Ltd. Abstract : What's already known about this topic? A karyomapping method using SNP array which identifies parental origins of an offspring's chromosomes. But few studies reported the applications of the method on the inherited diseases in IVF practice. What does this study add? This study was first to report the feasibility of using SNP array‐based PGH to select disease‐free embryos from parents carrying thalassemia mutations in Chinese. It offers a simple approach to do haplotyping and HLA matching simultaneously.