【作者】 黄汉琮；

【导师】 曾林祥；

【作者基本信息】 南昌大学 ， 内科学， 2011， 硕士

【摘要】 目的：检测ORMDL3基因rs7216389位点多态性在中国江西地区汉族人群中的分布频率,探讨rs7216389位点多态性与支气管哮喘的关系。方法：试验分二组：(1)哮喘组：哮喘病例患者80例,其中男性43例,女性37例；(2)对照组：同期的健康体检患者84例作为对照组,其中男性46例,女性38例。应用DNA提取试剂盒提取基因组DNA。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测ORMDL3的基因型。将我国江西地区汉族人群与其他不同种族人群间的ORMDL3基因rs7216389位点等位基因频率进行了比较；还比较了两组之间各基因型及等位基因的分布频率。结果：(1)哮喘组和对照组ORMDL3基因rs7216389位点3种基因型(TT、TC、CC)分布频数分别为30、36、14和18、40、26;采用χ2检验对不同基因型的分布观察值和期望值进行比较(哮喘组χ2=0.108；对照组χ2=0.097,P均>0.05),差异均无统计学意义；(2)健康对照组ORMDL3基因rs7216389位点等位基因频率在不同种族人群中比较差异有显著性差异(χ2=19.31,P<0.05);(3)在哮喘组ORMDL3基因rs7216389位点等位基因T与C的分布频率分别为60.0%和40.0%,在对照组为45.2%和54.8%,两组T与C等位基因频率差异比较亦有统计学意义(χ2=7.16,P<0.05);哮喘组中ORMDL3基因rs7216389位点3种基因型(TT、TC、CC)分布频率分别为37.5%、45.0%、17.5%；健康对照组分布频率分别为21.4%、47.6%、31.0%,3种基因型在两组分布频率差异比较有统计学意义(χ2=6.72,P<0.05)；(4)对ORMDL3基因rs7216389位点基因多态性与哮喘相关性进行单变量Logistic回归分析,结果表明相对CC基因型而言,TT+TC与TT基因型均能显著增加哮喘发生的概率[优势比(OR)值及95%可信区间(CI)分别为2.113(1.009-4.426)、3.095(1.292-7.417),P均<0.05]。结论：(1)ORMDL3基因rs7216389位点多态性广泛存在于不同地域及种群中,包括江西地区汉族人群,且分布频率差异有显著性。(2)ORMDL3基因rs7216389位点多态性与江西地区汉族人群哮喘易感性相关,其T等位基因是哮喘病的易感基因。更多还原

【Abstract】 Objective:To investigate the frequency and association of the allele polymorphism of ORMDL3 at rs7216389 locus in Han Chinese of Jiangxi.Methods:The experiment is divided two groups:(1) The asthmatic group included 80 patients with asthma (43males, and 37 females); (2) The normal control group included 84 healthy individuals (46males, and 38 females). Using DNA extraction reagent box extract genome team DNA. rs7216389 locus allele in ORMDL3 gene was analyzed by Polymerase chain reaction-restriction Fragment length Polymorphism (PCR-RFLP) in both groups. Distribution of rs7216389 locus genotypes and frequency of rs7216389 locus allele were compared between the two groups. The frequency of rs7216389 locus allele in Han Chinese of Jiangxi was also compared with that in Puerto Ricans, Mexicans, German, British.Results:(1) The frequencies of genotype of TT, TC and CC were respectively 30,36 and 14 in asthmatic subjects, which were in good agreement with Hardy-Weinberg equilibrium (χ2=0.108, P>0.05). The frequencies of genotype of TT, TC and CC were respectively 18,40 and 26 in normal control, which were in agreement with Hardy-Weinberg equilibrium (χ2=0.097, P>0.05). (2) Significant difference was found in the allele (T, C) frequency among populations in different ethnic populations (χ2=19.31, P<0.05). (3) In the asthmatic patients the frequencies of T and C of rs7216389 locus allele in ORMDL3 gene were 60.0% and 40.0%, respectively, and the genotype frequencies of (TT, TC, CC) were 37.5%、45.0% and 17.5%, respectively. In normal control the frequencies of locus allele were 45.2% and 54.8%, respectively, and the genotype frequencies of (TT, TC, CC) were 21.4%、47.6% and 31.0%, respectively. There was significant difference was observed between the asthmatics and normal controls (χ2 value were 6.72、7.16, respectively, all P<0.05). (4) The presence of TT+TC and TT genotypes can significantly increase the probability of asthma. The odds ratio (OR) of TT+TC and TT were 2.113 (1.009～4.426)、3.095 (1.292～7.417), respectively. When compared with CC genotype, all P<0.05.Conclusions:(1) The rs7216389 locus genetic polymorphism was found to exist widely in different ethnic populations, including the Han Chinese of Jiangxi, and the significance difference in the distribution frequency was observed. (2) The rs7216389 locus genetic polymorphism is associated with susceptibility of asthma in Han Chinese of Jiangxi, the T allele in ORMDL3 gene was found to be a susceptibility gene in asthma.更多还原