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目的 对福建诏安地区哮喘易感基因进行研究,以获得相关位点的资料,确定哮喘易感性与该区域的连锁关系。方法 用 P C R/ Rsa Ⅰ酶解检测位于染色体11q13 区的β链 Ig E 高亲和力受体基因( Fcε R Iβ) 非编码区的两个多态性位点;用同位素掺入的 P C R 法扩增位于染色体5q3133 区的 D5 S436 和 D5 S393 多态性标记,对32 个哮喘家系,共192 份样品进行分析。结果 Fc ε R Iβ基因第2 内含子区 RsaⅠ多态性位点 A 等位片段与哮喘有显著相关性( P< 0 .05 , O R= 2 .039) ;血清总 Ig E 水平的差异在 Fc ε R Iβ基因第2 内含子区 Rsa Ⅰ多态性位点的不同基因型之间有显著性差别( P< 0 .05) ; A 等位片段与血清总 Ig E 水平的升高有显著相关性( P< 0 .05 , R R= 1 .361) 。 Fc ε R Iβ基因第7 外显子非编码区 Rsa Ⅰ多态性位点未显示与哮喘有相关性。受累同胞配对法分析显示, D5 S436 与哮喘呈连锁状态( P< 0 .05) , D5 S393与哮喘无连锁关系; D5 S436 和 D5 S393 与高血清总 Ig E 都没有显示连锁关系。结论
OBJECTIVE: To investigate the susceptibility genes for asthma in Zhaoan area of Fujian Province to obtain the data of related sites and determine the linkage between asthma susceptibility and the area. Methods P C R / Rsa Ⅰ digestion was used to detect two polymorphic sites in the non-coding region of the high-affinity receptor gene of β-chain Ig E in the region of chromosome 11q13. C R method was used to amplify the D5 S436 and D5 S393 polymorphism markers located on chromosome 5q3133, and 192 samples from 32 asthma pedigrees were analyzed. Results There was a significant correlation between the allele A of the Rsa Ⅰ polymorphism site in the second intron of FcεR Iβ gene and asthma (P0.05, OR = 2.039). The serum IgE level (P <0.05). There was a significant difference between the genotypes of the Rsa Ⅰ polymorphism site in the second intron of Fc ε R Ⅰβ gene and the total Ig E There was a significant correlation between the level of elevation (P <0.05, R R = 1.361). The Rsa Ⅰ polymorphism of non-coding region of exon 7 of FcεRⅠβ gene was not associated with asthma. Analysis of the affected siblings showed that D5 S436 was linked to asthma (P <0.05), D5 S393 had no linkage to asthma, and D5 S436 and D5 S393 did not show a linkage relationship with high serum total Ig E. in conclusion