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Published: 2023-02-28
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DOI: https://doi.org/10.52852/tcncyh.v163i2.1208
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Vol. 163 No. 2 (2023)
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Ly, N. H. H., Phong , N. V., Hà, N. T. V., & Tuấn, T. V. . (2023). 2. Study on preimplantation genetic diagnosis for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Medical Research, 163(2), 9-17. https://doi.org/10.52852/tcncyh.v163i2.1208

2. Study on preimplantation genetic diagnosis for congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Nguyen Ha Huong Ly, Nguyen Van Phong, Nguyen Thi Viet Ha, Tran Van Tuan

Main Article Content

Abstract

This study aims to develop a protocol of PGD for CAH due to 21-OHD and applying the protocol for family in which the member was diagnosed with CAH due to 21-OHD. 4 peripheral EDTA blood samples and four day-5 embryo samples were taken from a family in which, the members carried the CYP21A2 mutation. The linkage analysis method was used to reveal the associated four selected short tandem repeat (STR) markers closely linked to the mutational CYP21A2 gene in the couples and their child. The results indicated that the protocol of PGD for CAH due to 21-OHD had been developed successfully. Using the PGD protocol for CAH due to 21-OHD in four day-5 embryos from V.Th.'s family, we confirmed mutant homozygozity (affected status) in three of the embryos and wild type homozygozity (healthy) in one.

Article Details

Keywords

Congenital adrenal hyperplasia - CAH, CYP21A2 gene, Preimplantation genetic diagnosis (PGD), linked-analysis

References

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