多囊卵巢综合征患者线粒体DNA全序列突变的筛查

目的 筛查多囊卵巢综合征患者线粒体DNA突变情况.方法 对57例多囊卵巢综合征患者和38名正常对照线粒体DNA进行全序列测定,并对变异位点的差异进行了统计学处理.结果 在患者组和对照组线粒体DNA之间共筛查到233个单碱基变异和一个重复序列变异.对于前者的233个单碱基变异,两组间差异无统计学意义(P＞0.05);后者的重复序列变异位于线粒体DNA第8281位,是由9个碱基CCCCCTCTA组成的重复序列单位片段,在患者组该位点含有这一片段的比例为93.8%,而在对照组则为71.4%,分布差异有统计学意义(P＜0.05).结论 线粒体DNA第8281位重复序列CCCCCTCTA可能与多囊卵巢综合征相关.

Screening of mutations of the full length mitochondrial DNAs in patients with polycystlc ovary syndrome

Objective To screen the mitochondrial DNA mutations in patients with polycystic ovary syndrome(PCOS).Methods Peripheral blood samples were collected from 57 patients with PCOS and 38 normal women.Full length sequencing was conducted on the mitochondrial DNAs.Analysis of the differences in the mutations was carried out using χ2 test.Results 233 single nucleotide variations wereidentified in the mitochondrial DNA of the PCOS patients and normal controls without significant difference between these 2 groups.One repeat sequence variation in mitochondrial DNA was identified to be located at nt 8281 of the mitoehondrial DNA.consisting of the 9-bp CCCCCTCTA repeat in both groups,howeyer,the positive rate of this one repeat sequence variation of the PCOS group was 93.8%; significantly higher than that of the normal control group(71.4%,P＜0.05).Conclusion PCOS may be associated witll the 9-bp CCCCCTCTA repeat sequence at nt 8281 of human mitochondrial DNA.