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Preimplantation genetic haplotyping for six Chinese pedigrees with thalassemia using a single nucleotide polymorphism
Xu Liu1,2,3, Yanwen Xu4,5, Jishan Sun3
1State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
Prenatal Diagnosis
|March 5, 2017
Summary
Single nucleotide polymorphism (SNP) array-based preimplantation genetic haplotyping (PGH) is accurate and feasible for the Chinese population. This method simplifies embryo selection for in vitro fertilization (IVF).
Area of Science:
- Reproductive Medicine
- Genetics
- Molecular Biology
Background:
- Preimplantation genetic diagnosis (PGD) is crucial for inherited disorders.
- Current short tandem repeat (STR) methods for PGD are labor-intensive and time-consuming.
- A more efficient method for PGD is needed, especially in diverse populations.
Purpose of the Study:
- To evaluate the accuracy and feasibility of single nucleotide polymorphism (SNP) array-based preimplantation genetic haplotyping (PGH) in a Chinese population.
- To compare SNP-based PGH with the traditional STR method for PGD.
- To assess the utility of SNP-based PGH for simultaneous haplotyping and human leukocyte antigen (HLA) matching.
Main Methods:
- Six pedigrees with thalassemia undergoing PGD were studied.
- Embryo biopsies were performed following in vitro fertilization (IVF).
- Embryos were analyzed using both STR-based and SNP-based PGH methods in parallel.
Main Results:
- SNP-based PGH was successfully applied to all six pedigrees.
- Results showed high concordance with mutation detection (96.4%) and HLA matching (100%).
- Embryos identified as suitable by SNP-based PGH were also confirmed by conventional methods.
Conclusions:
- SNP-based PGH is an accurate and feasible method for PGD in the Chinese population.
- The method simplifies embryo selection by enabling simultaneous haplotyping and HLA matching.
- Further research is recommended to enhance the clinical utility of SNP-based PGH.
