儿童5种多基因遗传病与结合珠蛋白遗传多态的关系

目的 探讨福州地区5种儿童多基因遗传病(变应性鼻炎、哮喘、特发性性早熟、单纯性肥胖症、特发性矮小症)的发病与结合珠蛋白(Hp)遗传多态的关系. 方法 应用聚丙烯酰胺凝胶垂直平板电泳技术,分离患者血清中Hp,分析5种患者群体的Hp基因频率和基因型分布,并对5个群体间进行差异比较. 结果 Hp1基因频率分别为:变应性鼻炎0.387,哮喘0.400,特发性性早熟0.193,单纯性肥胖症0.317,特发性矮小症0.254,正常组0.284.Hp0-0型频率分别为:3.85,0.08,3.85,6.84,3.33,2.40.Hardy-Weinberg遗传平衡分析,除了矮小症群体为非平衡群体外,其他群体均为平衡群体. 结论 Hp遗传多态与变应性鼻炎、哮喘、特发性性早熟、单纯性肥胖症的发病相关.

Relationship between Genetic Polymorphism of Haptoglobin and Five Polygenetic Inherited Diseases in Children

Objective To investigate the relationship between haptoglobin genetic polymorphism(Hp) and five multigenic inherited diseases in children(allergic rhinitis,bronchial asthma,sexual precocity,obesity,short stature).Methods The phenotypes of haptoglobin were studied by means of polyacryamide gel eletrophoresis in five multigenic inherited diseases populations.The Hp gene frequencies of five populations were calculated contrasting with each other and normal controls.Results The Hp~(1) gene frequencies were allergic rhinitis(0.387),bronchial asthma(0.400),sexual precocity(0.193),obesity(0.317),short stature(0.254),normal controls(0.284).The frequencies of Hp~(0-0) phenotype were(3.85),0.08,3.85,6.84,3.33 and 2.40,respectively.Hp-type distribution was in agreement with the expectations of a population in Hardy-Weinberg equilibrium in all populations except for short stature.Conclusion Hp genetic polymorphism related to allergic rhinitis,bronchial asthma,sexual precocity and obesity except for short stature.