Application of NGS-based SNP haplotyping for preimplantation genetic diagnosis for beta-thalassemia and HLA matching
10.3760/cma.j.issn.1003-9406.2019.11.008
- VernacularTitle: 基于高通量测序的单体型分析在地中海贫血-HLA配型的植入前遗传学诊断中的应用
- Author:
Yan YANG
1
;
Yanqiu LIU
;
Qing LU
;
Jia CHEN
;
Haiyan LUO
;
Pengpeng MA
Author Information
1. Prenatal Diagnosis Center of Jiangxi Women and Children’s Hospital, Nanchang, Jiangxi 330006, China
- Publication Type:Journal Article
- Keywords:
β
-Thalassemia;
Preimplantation genetic diagnosis;
Human leukocyte antigen;
Next generation sequencing;
Haplotyping
- From:
Chinese Journal of Medical Genetics
2019;36(11):1090-1093
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To assess the value of next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping for preimplantation genetic diagnosis (PGD) for beta-thalassemia coupled with human leukocyte antigen (HLA) matching.
Methods:Three couples were recruited. Couple 1 both carried a βIVS-2-654 variation and had previously given birth to a son with β thalassemia major. Couple 2 respectively carried βcd41-42 and βIVS-2-654 but had no history of pregnancy. Couple 3 respectively carried βCD17and βIVS-2-654, and had a daughter carrying βCD17.
Results:For couple 1, NGS-SNP typing identified two embryos not only unaffected with thalassemia but also with matched HLA. One blastocyst was transferred and resulted in successful pregnancy. A healthy baby was born at 39th week of gestation. Its umbilical blood was used to treat the sick brother through hemopoietic stem cell transplantation. For couple 2, seven blastocysts were obtained. Second transplantation has resulted in successful pregnancy. Prenatal diagnosis was consistent with PGD. For couple 3, two blastocysts not only unaffected with thalassemia but also with no pathogenic copy number variations were obtained. Transfer of one blastocyte resulted in successful pregnancy, and prenatal diagnosis was consistent with PGD.
Conclusion:NGS-based SNP typing is an useful tool for selecting embryos unaffected with beta-thalassemia and matched HLA through PGD.
