苗族和汉族妇女骨质疏松候选基因多态性频率分布的比较

The Frequency of Distribution of Osteoporotic Candidate Genes Polymorphism in Women of Miao and Han Nationalities

目的研究苗族妇女骨质疏松候选基因多态性频率的分布，并与汉族妇女进行比较。方法筛选贵州省都匀农村地区20～45岁健康苗族妇女56例和汉族妇女100例为研究对象，她们之间均无亲缘关系。使用PCR—RFLP分析或PCR扩增产物直接分析，检测维生素D受体（VDR）基因ApaⅠ多态性、雌激素受体d（ER—α）基因XbaⅠ、PvuⅡ和BstUⅠ多态性。结果苗、汉族妇女所有位点的基因型和等位基因频率分布均符合Hardy—Weinberg定律；苗族和汉族妇女上述基因型和等位基因频率分布间差别均无显著性意义（P〉0.05）；苗族和汉族妇女均缺乏ER基因第1外显子区的BstUⅠ多态性，均为BB基因型，并进一步通过PCR产物直接测序符合该结果。结论苗族和汉族妇女骨质疏松候选基因多态性频率分布间无差异，提示苗族和汉族妇女在骨质疏松发病上有相似的遗传背景。

Objective To investigate the possible difference of frequency distribution of ostcoporotic candidate genes polymorphism in women of Miao nationality compared with those of Han nationality. Methods 56 healthy women aged 20 - 45 years of Miao nationality and 100 women of Han nationality from Douyun area were filtrated, they were not relatives. The vitamin D receptor （VDR） Apa Ⅰ , ER - αXba Ⅰ , Pvu Ⅱ, and BstU Ⅰ genotypes were determined by PCR - Restriction Fragment Length Polymorphism （RFLP） or direct DNA auto - sequencing. Results The allele frequencies of all polymorphisms in the two groups of women fit in Hardy - Weinberg equilibrium. There was no significant difference in frequency distribution of the above genotypes and alleles of women of Miao and Han nationalities （ P 〉0.05 ）. Women of Miao and Han nationalities all lacked of ER -gene, BstU Ⅰ was in polymorphic sites, they all belonged to BB genotype and were determined by PCR to fit in the result. Conclusion There is no significant difference in frequency distribution of osteoporotic candidate genes polymorphism between women of Miao and Han nationalities. This finding shows the similar genetics background in pathogenesis of osteoporosis in women of Miao and Han nationalities.