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Single Nucleotide Polymorphisms (SNPs) and Variable Number Tandem Repeats (VNTRs) in mtDNA D-loop and CO Ⅱ- tRNA^Lys Intergenic Region with PCOS
作者姓名:Zhi-ping HU  Ying WANG  Wen-wei MAO  Xiao-wei ZHANG  Jie QIAO  Qiu-fang ZHANG
作者单位:[1]Reproductive Medical Center, Peking University Third Hospital, Beijing 100191, China [2]School of Pharmacy, Shanghai Jiao Tong University, Shanghai 200240, China
基金项目:supported by a grant from the Foundation of Ministry of Education of China (No. JHG06-7-03)
摘    要:Objective To explore the relationships of variations in D-loop and COII-tRNA Lys intergenic region in mtDNA with PCOS. Methods A total of 77 PCOS and 45 non-PCOS patients were enrolled, whose D-loop and COII-tRNA Lys intergenic region in mtDNA were amplified and sequenced; sexual hormone assay, oral glucose tolerance test (OGTT) and insulin releasing test were carried out. Then variations found in mtDNA were compared between the two groups, the correlations between variations and clinical indexes were analyzed in all subjects. Results Nucleotide variations found in mtDNA were not different between the two groups, but the mutation of 16 094T/C was found associated with the serum levels of T and fasting insulin; (303-317)Cn TCn associated with the serum levels of A and LH; 195C/T with A level and 491T/C with LH level; (8 272-8 289)(ACCCCCTCT)n was associated with the serum level of 1 h glucose. Conclusion Noncoding region mutations in mtDNA perhaps associate with PCOS clinical symptoms and involve in PCOS development.

关 键 词:线粒体DNA  基因突变  tRNA  单核苷酸多态性  赖氨酸  串联重复  p区  SNP
收稿时间:20 April 2011

Single Nucleotide Polymorphisms (SNPs) and Variable Number Tandem Repeats (VNTRs) in mtDNA D-loop and CO II- tRNALys Intergenic Region with PCOS
Zhi-ping HU,Ying WANG,Wen-wei MAO,Xiao-wei ZHANG,Jie QIAO,Qiu-fang ZHANG.Single Nucleotide Polymorphisms (SNPs) and Variable Number Tandem Repeats (VNTRs) in mtDNA D-loop and CO II- tRNALys Intergenic Region with PCOS[J].Journal of Reproduction and Contraception,2011,22(3):129-138.
Authors:Zhi-ping HU  Ying WANG  Wen-wei MAO  Xiao-wei ZHANG  Jie QIAO  Qiu-fang ZHANG
Institution:1. Reproductive Medical Center, Peking University Third Hospital. Beifing 100191, China
2. School of Pharmacy, Shanghai Jiao Tong University, Shanghai 200240, China
Abstract:Objective To explore the relationships of variations in D-loop and COII-tRNALys intergenic region in mtDNA with PCOS.Methods A total of 77 PCOS and 45 non-PCOS patients were enrolled,whose D-loop and COII-tRNALys intergenic region in mtDNA were amplified and sequenced; sexual hormone assay,oral glucose tolerance test (OGTT) and insulin releasing test were carried out.Then variations found in mtDNA were compared between the two groups,the correlations between variations and clinical indexes were analyzed in all subjects.Results Nucleotide variations found in mtDNA were not different between the two groups,but the mutation of 16 094T/C was found associated with the serum levels of T and fasting insulin; (303-317)CnTCn associated with the serum levels of A and LH;195C/T with A level and 491T/C with LH level; (8 272-8 289)(ACCCCCTCT)n was associated with the serum level of 1 h glucose.Conclusion Noncoding region mutations in mtDNA perhaps associate with PCOS clinical symptoms and involve in PCOS development.
Keywords:PCOS  D-loop region  COII-tRNALys intergenic region  mtDNA
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