A 9-bp Deletion Homoplasmy in Women with Polycystic Ovary Syndrome Revealed by Mitochondrial Genome-Mutation Screen
| Autor: | Guofang Feng, Jianhang Leng, Yan Jiang, Lin Yu, Guangchao Zhuo |
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| Rok vydání: | 2009 |
| Předmět: |
Mitochondrial DNA
endocrine system diseases Biology medicine.disease_cause DNA Mitochondrial Polymerase Chain Reaction Polymorphism Single Nucleotide Biochemistry Genome law.invention Reference Values law Genetics medicine Humans Point Mutation Molecular Biology Ecology Evolution Behavior and Systematics Polymerase chain reaction Sequence Deletion Heterogeneous disorder Homoplasmy Mutation Base Sequence Genetic Variation General Medicine Polycystic ovary female genital diseases and pregnancy complications Human genetics Mutagenesis Insertional Genome Mitochondrial Female Polycystic Ovary Syndrome |
| Zdroj: | Biochemical Genetics. 48:157-163 |
| ISSN: | 1573-4927 0006-2928 |
| DOI: | 10.1007/s10528-009-9308-5 |
| Popis: | Polycystic ovary syndrome (PCOS) is a complex and heterogeneous disorder presenting a challenge for clinical investigators. To investigate the association of a mitochondrial genetic basis with PCOS, we screened mutations of the whole mitochondrial genome in 57 women patients with PCOS and 38 healthy control individuals. Two-step PCR reactions were adopted to amplify and sequence the whole mitochondrial genome. A 9-bp deletion variant appeared in homoplasmy between PCOS patients and control individuals. In the 62 individuals with complete sequences, eight of 34 (23.5%) patients showed the 9-bp deletion, compared with only two of 28 (7.1%) in healthy controls. The 9-bp deletion variant in region V of mitochondrial DNA may be associated with the heterogeneous disorder PCOS. |
| Databáze: | OpenAIRE |
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