Polymorphisms and haplotype of mitochondrial DNA D-loop region are associated with polycystic ovary syndrome in a Chinese population
Polymorphisms and haplotype of mitochondrial DNA D-loop region are associated with polycystic ovary syndrome in a Chinese population
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线粒体DNA D环区多态性和单倍型与中国人群多囊卵巢综合征的相关性
DOI：
10.1016/j.mito.2020.12.006
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发表时间：
2021-01-23
期刊：
影响因子：
4.4
通讯作者：
Cao, Yunxia
中科院分区：
文献类型：
--
作者：
Deng, Xiaohong;Ji, Dongmei;Cao, Yunxia
线粒体DNA （mtDNA）的多态性与一系列疾病有关。本文研究了中国人群mtDNA d环区多态性、mtDNA单倍型与多囊卵巢综合征（PCOS）的关系，以及d环变异与PCOS临床特征的相关性。421名PCOS患者和409名对照者的全血样本mtDNA d -环进行了下一代测序。改型G207A （PBH）
Polymorphisms in mitochondrial DNA (mtDNA) have been linked to a range of diseases. Here we investigate the relationship between mtDNA D-loop region polymorphisms, mtDNA haplotype and polycystic ovary syndrome (PCOS), as well as the correlation of D-loop variants and clinical characteristics of PCOS, in a Chinese population. The mtDNA D-loop of whole blood samples from 421 PCOS patients and 409 controls underwent next generation sequencing. The variants G207A (PBH