育龄期女性酒精代谢相关基因多态型的分布

The Distribution of Polymorphisms About Alcohol Metabolizing-related Genes in Female Child-bearing Ages

目的研究酒精脱氢酶2(ADH2)基因型和乙醛脱氢酶2(ALDH2)基因型在育龄期妇女中的分布 ,为筛选高危敏感个体、采取针对性预防措施以减少酒精相关性出生缺陷(ARBD)的发生提供理论基础和技术指导。方法用PCR_RFLP技术测定随机抽取的60名健康孕妇的ADH2、ALDH2基因型。结果杂合型ADH2与纯合型ALDH2占优势(分别为0.800 ,0.617) ;9种不同ADH2基因型与ALDH2基因型的组合分布间差异无显著性(χ2=1.80,P>0.05)。结论杂合型ADH2占优势可能与样本量偏低、突变等因素有关 ,需进一步研究验证 ;育龄期妇女中携带酒精相关性疾病易感基因型个体占多数(0.617) ,应加强监测与预防酒精相关性出生缺陷 (ARBD)

Objective Based on the study on the distribution of genotypes about alcohol dehydrogenase 2 and aldehyde dehydrogenase 2 in the female child_bearing ages to provide theoretic and technical directions for filtering out high_risk and sensitive individuals and take preventive measures pointedly to decrease alcohol_related birth defects. Methods Techniques of polymerase chain reaction_restriction fragment length polymorphism(PCR_RFLP) were used to detect the genotypes of ADH2 and ALDH2 in sixty randomly_selected healthy pregnant women. Results Heterozygous genotype of ADH2 and homozygous genotype of ALDH2 were the two dominant ones(respectively 0.800,0.617). There were no statistical differences among the distributions of nine combinations of ADH2 genotypes and ALDH2 ones (χ2=1.80,P>0.05). Conclusion The assumable reasons for the dominance of heterozygous ADH2 genotype were a relatively small size of samples or gene mutation etc,which needed further researches to be confirmed.The proportion of individuals carrying about 'susceptible genotypes of alcohol_related diseases'in female child_bearing ages was more than one half (0.617),which called on the reinforce of the surveillance on and prevention of alcohol_related birth (ARBD).