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用染色体候选区域限定策略对诏安地区人群哮喘易感性的初步研究 |
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陈虹 杜晓娟 林丽渊 姜晶 胡良平 伏瑾 张惠琴 陈育智
【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PCR/RsaⅠ酶解检测位于染色体11q13区的β链IgE高亲和力受体基因(Fc εRI-β)非编码区的两个多态性位点；用同位素掺入的PCR法扩增位于染色体5q31-33区的D5S436和D5S393多态性标记，对32个哮喘家系，共192份样品进行分析。结果 Fc εRI-β基因第2内含子区Rsa Ⅰ多态性位点A等位片段与哮喘有显著相关性(P＜0.05，OR=2.039)；血清总IgE水平的差异在Fc εRI-β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IgE水平的升高有显著相关性(P＜0.05，RR=1.361)。Fc εRI-β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，D5S436与哮喘呈连锁状态(P＜0.05)，D5S393与哮喘无连锁关系；D5S436和D5S393与高血清总IgE都没有显示连锁关系。结论 Fc εRI-β基因的多态性可能与中国人哮喘及高血清总IgE相关，染色体5q31-33区是进行中国人哮喘易感性研究的重要候选区域之一。
【关键词】 哮喘易感性 Fc εRI-β基因 染色体5q31-33区 多态性遗传标记
A preliminary study on the genetic susceptibility
of asthma in a Chinese population
CHEN Hong*, DU Xiaojuan, LIN Liyuan, JIANG Jing, HU Liangping, FU Jing, ZHANG Huiqin, CHEN Yuzhi.
*Department of Biochemistry and Immunology, Capital Institute of Pediatrics, Beijing, 100020 P.R.China. E-mail:[email protected]
【Abstract】 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.ResultsGenotypes containing A allele within intron 2 polymorphic site[1] [2] [3] 下一页
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