胆固醇α.doc

胆固醇7α羟化酶基因多态性与小儿血脂的关系
作者:王程强,汪春红,张妍作者单位:桂林医学院预防医学教研室,广西桂林 541001
【摘要】目的:探讨胆固醇7Α羟化酶(cholesterol 7Αhydroxylase, CYP7A1)基因多态性与湖北儿童血脂水平的关系。方法:采用聚合酶链反应-限制性片段长度多态性方法(PCRRFLP)对216例健康儿童CYP7A1基因的A204C基因座进行Eco31I酶切多态性分析,血脂测定在全自动化分析仪上进行。结果:研究人群中CYP7A1基因的3型频率分别为:%,%、%。AA基因型在LDLC, TC, Lp(a)水平上均低于其他基因型,基因型在HDLC水平上均高于其他基因型,并且其差异具有显著性。3型在ApoA上两两之间均存在显著性差异,而在TG中无显著性差异。基因型在研究人群中所占的比例最高,AA基因型所占的比例最小。CYP7A1的基因多态性与儿童的血脂水平存在密切的关系。
【关键词】胆固醇7Α羟化酶基因;单核苷酸多态性;血脂;儿童
Relationships between polymorphism of CYP7A1 gene and serum lipid levels in children
WANG Chengqiang1, WANG Chunhong2, ZHANG Yan2
( of Preventive Medicine, Guilin Medical College Guilin 541001,China;2. School of Public Health, Wuhan University Wuhan 430000,China)
[ABSTRACT] Objective: To study the relationships between the polymorphism of CYP7A1 gene and the serum lipid levels in children in Hubei province. Methods: The study subjects consisted of 216 healthy children who were randomly selected from the school. The frequency distribution of the polymorphism in nucleotide A204C of 7Αhydroxylase gene was detected using PCRRELP. The serum lipid levels were determined using automatic biochemical analyzer. Results: The frequencies of AA, AC genotypes were %, % and % respectively. There were significant differences in low density lipoprotein cholesterol (LDLC), total cholesterol