title: Preimplantation genetic haplotyping for six Chinese pedigrees with thalassemia using a single nucleotide polymorphism microarray.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.|Fudan Center for Genetic Epidemiology, School of Life Sciences, Fudan University, Shanghai, China.|NorthShore Research Institute, NorthShore University HealthSystem, Evanston, IL, USA.
authors.forename: Xu
authors.identifier: http://orcid.org/0000-0002-8134-0757
authors.initials: X
authors.lastname: Liu
authors.affiliation: Reproductive Medicine Center, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.|Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, China.
authors.forename: Yanwen
authors.initials: Y
authors.lastname: Xu
authors.affiliation: NorthShore Research Institute, NorthShore University HealthSystem, Evanston, IL, USA.
authors.forename: Jishan
authors.initials: J
authors.lastname: Sun
authors.affiliation: Center for Cancer Genomics, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
authors.forename: Zheng
authors.initials: Z
authors.lastname: Zhang
authors.affiliation: Reproductive Medicine Center, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.|Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.affiliation: Reproductive Medicine Center, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.|Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, China.
authors.forename: Chenhui
authors.initials: C
authors.lastname: Ding
authors.affiliation: Fudan Center for Genetic Epidemiology, School of Life Sciences, Fudan University, Shanghai, China.|NorthShore Research Institute, NorthShore University HealthSystem, Evanston, IL, USA.
authors.forename: S Lilly
authors.initials: SL
authors.lastname: Zheng
authors.affiliation: State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.|Fudan Center for Genetic Epidemiology, School of Life Sciences, Fudan University, Shanghai, China.|NorthShore Research Institute, NorthShore University HealthSystem, Evanston, IL, USA.|Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, China.
authors.forename: Jianfeng
authors.initials: J
authors.lastname: Xu
authors.affiliation: Reproductive Medicine Center, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.|Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, China.
authors.forename: Canquan
authors.initials: C
authors.lastname: Zhou
mesh_terms: D044466:Asian People / Q000235:genetics; D001755:Blastocyst / Q000473:pathology; D002681:China; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005307:Fertilization in Vitro; D005820:Genetic Testing / Q000379:methods; D006239:Haplotypes; D006801:Humans; D008297:Male; D046228:Microarray Analysis / Q000379:methods*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D011237:Predictive Value of Tests; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D015203:Reproducibility of Results; D013789:Thalassemia / Q000175:diagnosis* / Q000235:genetics