Single Nucleotide Polymorphisms (SNPs) and Variable Number Tandem Repeats (VNTRs) in mtDNA D-loop and CO II- tRNALys Intergenic Region with PCOS

• Published in: Journal of reproduction and contraception Vol. 22; no. 3; pp. 129 - 138
• Main Authors: HU, Zhi-ping, WANG, Ying, MAO, Wen-wei, ZHANG, Xiao-wei, QIAO, Jie, ZHANG, Qiu-fang
• Format: Journal Article
• Language: English
• Published: Elsevier B.V 01.09.2011
• Subjects: COII-tRNALys intergenic region; D-loop region; mtDNA; PCOS; PCOS; mtDNA; D-loop region; COII-tRNALys intergenic region
• ISSN: 1001-7844
• DOI: 10.1016/S1001-7844(12)60008-X

To explore the relationships of variations in D-loop and COII-tRNALys intergenic region in mtDNA with PCOS. 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. 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. Noncoding region mutations in mtDNA perhaps associate with PCOS clinical symptoms and involve in PCOS development.