Preimplantation genetic diagnosis for a carrier with m.3697G > A mitochondrial DNA mutation.

Dongmei JiXinyuan LiJianxin PanKai ZongDawei ChenJordan Lee MarleyWeiwei ZouXiaohong DengYu CaoZhiguo ZhangPing ZhouHongying ShaYun-Xia Cao

Published in: Journal of assisted reproduction and genetics (2021)

The m.3697G > A mutation showed a random pattern of inheritance. PGD could be used to reduce the risk of inheritance of a high mutation load. Cumulus cells are not a suitable predictor of blastocyst mutation load.

Keyphrases

mitochondrial dna
copy number
induced apoptosis
genome wide
cell cycle arrest
gene expression
cell death
endoplasmic reticulum stress
cell proliferation