摘要
目的探讨昆明地区汉族人群载脂蛋白B(ApoB)基因中,MspI、XbaI、EcoRI基因型及等位基因频率分布及其与原发性高脂血症的相关性。方法采用病例-对照相关性研究策略,选择昆明地区汉族人群作为研究对象,对91例高脂血症患者及76例健康对照者进行基因多态性检测。结果 1)76例健康者中,MspI位点的+/+、+/-基因型频率分别是0.618、0.382,未检出-/-基因型;+和-的等位基因频率分别是0.809、0.191;XbaI位点的+/+、+/-、-/-基因型频率分别为0.013、0.145、0.842;+和-等位基因频率分别是0.086、0.914;EcoRI位点的+/+、+/-基因型频率分别是0.961、0.039,未检出-/-基因型;+和-等位基因频率分别是0.980、0.020。2)91例高脂血症患者中,XbaI位点的+/+、+/-及-/-基因型和等位基因频率与对照组比较,差异无统计学意义(P>0.05);MspI位点+/+基因型频率高于对照组,差异有统计学意义(P<0.05),Odd Ratio=27.40(95%CI:6.28～120.12);EcoRI位点的+/+基因型频率低于对照组,差异有统计学意义(P<0.05),Odd Ratio=0.247(95%CI:0.068～0.901)。结论 1)昆明地区汉族健康人群ApoB基因MspI、XbaI、EcoRI基因多态性有地区特征;2)该地区汉族高脂血症患者中的MspI基因位点的+/+基因型与高脂血症易感性相关,而EcoRI基因位点+/+基因型与高脂血症发病保护性可能相关。
Objective To investigate the association between the polymorphisms of ApoB gene and essential hyperlipidemia. Methods Case-control association stutly was performed. 91 patients with essential hyperlipidemia and 76 healthy controls were se lected from the Hanrs population living in Kunming. Results 1）In the control group,the frequencies of genotypes ApoB MspI ＋/ ＋ and ＋/-were 0. 618 and 0. 382 ,respectively. The genotype -/-was not detected for MspI. The frequencies of alleles ＋ andwere 0. 809 and 0. 191, respectively, for ApoB MspI. The frequencies of genotypes of Xbal ＋/.＋, ＋/- and -/- were 0. 013, 0. 145 and 0. 842,respectively. The frequencies of the alleles ＋ and - were 0. 086 and 0. 914,respectively, for XbaI. The frequencies of genotypes EcoRI ＋/＋ and ＋/- were 0. 961 and 0. 039 respectively. The genotype- /- was not detected for EcoRI. The frequencies of alleles ＋ and -were 0. 980 and 0. 020, respectively, for EcoRI. 2）. In the essential hyperlipidemia group, there were no significant differences in terms of the frequencies of genotypes or alleles for XbaI between the patients and the controls（P〉 0.05 ）. The frequency of MspI ＋/＋ in the patients is significant higher than that in the controls（x^2 = 35.42, P= 0. 000）, Odd Ratio = 27.40（95 % CI：6.28-120.12）. The frequency of EcoRI ＋/＋ in the patients was significant lower than that in the controls（ 2 = 5. 109,P=0. 024） ,Odd Ratio=0. 247, （95% CI：0. 068-0. 901）. Conchtsion 1）There are district characteristics in the frequencies of genotypes and alleles for ApoB MspI,XbaI,EcoRI in the normal population of Han% population living in Kunming. 2）The geno- type of MspI（＋/＋）is associated with the susceptibility to essential hyperlipidemia. The genotype of EcoRI （＋/＋）is associated with the protection from essential hyperlipidemia.
出处
《国际检验医学杂志》
CAS
2010年第11期1262-1264,共3页
International Journal of Laboratory Medicine
