PMID- 32378203 OWN - NLM STAT- MEDLINE DCOM- 20210709 LR - 20210709 IS - 1399-0004 (Electronic) IS - 0009-9163 (Linking) VI - 98 IP - 2 DP - 2020 Aug TI - A strategy using SNP linkage analysis for monogenic diseases PGD combined with HLA typing. PG - 138-146 LID - 10.1111/cge.13770 [doi] AB - Preimplantation genetic diagnosis (PGD) of genetic diseases, combined with human leukocyte antigen (HLA) typing (PGD-HLA), is a useful technique to have healthy offspring that are compatible with a sibling for hematopoietic stem cells transplantation (HSCT) to treat their genetic diseases. Here, we report a new strategy using single nucleotide polymorphism (SNP) linkage analysis for monogenic disease PGD combined with HLA typing, to simultaneously obtain the information of chromosomal aneuploidy, target mutations and HLA typing through a single low-depth next generation sequencing (NGS) procedure. In this study, five couples with probands underwent SNP linkage analysis for PGD-HLA typing were recruited. Within these five couples, two couples fortunately harvested four unaffected and HLA matched embryos with their siblings. After embryo transfer, two healthy neonates were born successfully. Subsequently, cord blood hematopoietic stem cells obtained from these two neonates were collected and frozen for treating their sick siblings. This novel strategy could provide abundant and specific SNPs for each family, therefore linkage information adjacent and even within HLA clusters were apparent. This study offers a highly flexible and precise method which could eliminate misdiagnosis caused by chromosomal recombination of the HLA gene, thus potentially benefit the success rate of HSCT. CI - (c) 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. FAU - Wang, Yuqian AU - Wang Y AD - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China. AD - National Clinical Research Center for Obstetrics and Gynecology, Beijing, China. AD - Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education, Beijing, China. FAU - Qin, Meng AU - Qin M AD - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China. AD - National Clinical Research Center for Obstetrics and Gynecology, Beijing, China. AD - Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education, Beijing, China. FAU - Yan, Zhiqiang AU - Yan Z AD - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China. AD - National Clinical Research Center for Obstetrics and Gynecology, Beijing, China. AD - Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education, Beijing, China. FAU - Guan, Shuo AU - Guan S AD - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China. AD - National Clinical Research Center for Obstetrics and Gynecology, Beijing, China. AD - Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education, Beijing, China. FAU - Kuo, Ying AU - Kuo Y AD - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China. AD - National Clinical Research Center for Obstetrics and Gynecology, Beijing, China. AD - Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education, Beijing, China. FAU - Kong, Siming AU - Kong S AD - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China. AD - National Clinical Research Center for Obstetrics and Gynecology, Beijing, China. AD - Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education, Beijing, China. FAU - Nie, Yanli AU - Nie Y AD - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China. AD - National Clinical Research Center for Obstetrics and Gynecology, Beijing, China. AD - Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education, Beijing, China. FAU - Zhu, Xiaohui AU - Zhu X AD - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China. AD - National Clinical Research Center for Obstetrics and Gynecology, Beijing, China. AD - Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education, Beijing, China. FAU - Zhi, Xu AU - Zhi X AD - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China. AD - National Clinical Research Center for Obstetrics and Gynecology, Beijing, China. AD - Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education, Beijing, China. FAU - Qiao, Jie AU - Qiao J AD - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China. AD - National Clinical Research Center for Obstetrics and Gynecology, Beijing, China. AD - Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education, Beijing, China. AD - Peking-Tsinghua Center for Life Sciences, Peking University, Beijing, China. AD - Beijing Advanced Innovation Center for Genomics, Peking University, Beijing, China. AD - Research units of comprehensive Diagnosis and Treatment of Oocyte Maturation Arrest, Beijing, China. FAU - Yan, Liying AU - Yan L AUID- ORCID: 0000-0001-9572-9440 AD - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China. AD - National Clinical Research Center for Obstetrics and Gynecology, Beijing, China. AD - Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education, Beijing, China. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20200525 PL - Denmark TA - Clin Genet JT - Clinical genetics JID - 0253664 SB - IM MH - Adult MH - Child MH - Child, Preschool MH - Female MH - Fertilization in Vitro/trends MH - *Genetic Linkage MH - Genetic Testing MH - *Hematopoietic Stem Cell Transplantation MH - High-Throughput Nucleotide Sequencing MH - *Histocompatibility Testing MH - Humans MH - Male MH - Polymorphism, Single Nucleotide/genetics MH - Pregnancy MH - *Preimplantation Diagnosis OTO - NOTNLM OT - HLA typing OT - PGD OT - SNP OT - linkage analysis OT - next-generation sequencing EDAT- 2020/05/08 06:00 MHDA- 2021/07/10 06:00 CRDT- 2020/05/08 06:00 PHST- 2020/03/07 00:00 [received] PHST- 2020/04/29 00:00 [revised] PHST- 2020/05/01 00:00 [accepted] PHST- 2020/05/08 06:00 [pubmed] PHST- 2021/07/10 06:00 [medline] PHST- 2020/05/08 06:00 [entrez] AID - 10.1111/cge.13770 [doi] PST - ppublish SO - Clin Genet. 2020 Aug;98(2):138-146. doi: 10.1111/cge.13770. Epub 2020 May 25.