摘要
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。
Objective To study the asthma genetic susceptibility by way of candidate region so as to accumulate data on the related loci in Chinese population and determine whether genetic susceptibility to asthma is linked to the chromosome region.Methods One hundred ninety two samples from 32 families were collected from Zhaoan county in Fujian province. Two Rsa Ⅰ polymorphic sites within uncoded region of the high affinity IgE receptor β chain gene (Fcε RI β) located on chromosome 11q13 were detected by PCR/RsaⅠ restriction endonuclease digestion. The polymorphic markers D5S436 and D5S393 within chromosome 5q31 33 were amplified by PCR incorporated with radioactive isotope. The asthma family samples were compared with unrelated samples randomly selected from general population.Results Genotypes containing A allele within intron 2 polymorphic site of Fcε RI β gene were associated with asthma ( P <0 05,OR=2.039).Significant difference in the level of total serum IgE was noted among three genotypes of intron 2 polymorphic site of Fcε RI β gene ( P <0 05). The association between A allele and elevated total serum IgE was also significant ( P <0 05,RR=1.361). No relationship between exon 7 polymorphic site of Fc εRI β gene and asthma was shown. By sib pair analysis,significant evidence for linkage to asthma was observed with D5S436( P <0 05) but not with D5S393. No significant linkage to total serum IgE was identified with both of these markers.Conclusion The above accumulated data suggested that both Fc εRI β gene and chromosome 5q31 33 could be very attractive candidate gene and region for further studies in Chinese population, and to confirm these preliminary results, more markers within these regions merit testing in additional population samples.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1999年第5期307-310,共4页
Chinese Journal of Medical Genetics
基金
北京市跨世纪人才工程专项基金
关键词
哮喘
易感性
染色性
多态性遗传标记
Asthma susceptibility FcεRI β gene Chromosome 5q31 33 Polymorphic genetic markers
