大麻素受体2基因rs35761398(Q63R)多态性与儿童免疫性血小板减少症的相关性研究  

Association analysis of cannabinoid receptor type 2 Gene(CNR2)rs35761398(Q63R)polymorphism with children immune thrombocytopenia

作　　者：阮积晨[1] 章赵华[2] 柳洁[2] 谢尧琪 舒旷怡[2] 江明华[2] RUAN Ji-chen;ZHANG Zhao-hua;LIU Jie;XIE Yao-qi;SHU Kuang-yi;JIANG Ming-hua(Department of Children Hematology,the Second Affiliated Hospital&Yuying Children's Hospital of Wenzhou Medical University,Wenzhou,Zhejiang 325000,China;不详)

机构地区：[1]温州医科大学附属第二医院育英儿童医院儿童血液科,浙江温州325027 [2]温州医科大学附属第二医院育英儿童医院检验科,浙江温州325027

出　　处：《中国卫生检验杂志》2020年第6期684-687,共4页Chinese Journal of Health Laboratory Technology

基　　金：浙江省医药卫生科技项目(2015KYA155);浙江省温州市公益性科技计划项目(Y20140674)。

摘　　要：目的探讨大麻素受体2基因Q63R多态性与浙南地区汉族儿童免疫性血小板减少症的发生、发展的相关性。方法应用PCR-测序分析126例免疫性血小板减少症患儿和94例正常对照组大麻素受体2基因Q63R多态性,并统计分析各基因型及等位基因的频率。结果病例组和对照组大麻素受体2基因QQ型、QR型、RR型分别为25%、54%、21%和33%、44%、23%,2组间基因型分布差异无统计学意义(P>0.05);急性免疫性血小板减少症组与慢性免疫性血小板减少症组QQ型、QR型、RR型分别为24%、50%、26%与25%、64%、11%;急性组、慢性组及对照组3者间基因型分布差异无统计学意义(P>0.05);急性组与慢性组、对照组间基因型分布差异无统计学意义(P>0.05),而慢性组与对照组间基因型分布差异有统计学意义(P<0.05)。病例组和对照组大麻素受体2等位基因频率Q、R分别为52%、48%和55%、45%,2组间分布差异无统计学意义(P>0.05);急性组、慢性组Q、R等位基因频率分别为49%、51%与57%、43%,急性组、慢性组、对照组间等位基因频率分布差异无统计学意义(P>0.05)。结论大麻素受体2基因Q63R多态性与浙南地区汉族儿童免疫性血小板减少症的发生、发展无明显相关性,携带RR型及R等位基因的患儿亦与发展为慢性免疫性血小板减少症无明显联系,RR型作为免疫性血小板减少症患儿预后的生物指标有待验证。Objective To investigate the association between Q63R gene polymorphism and the onset and progress of children immune thrombocytopenia(ITP)in Han nationality of South Zhejiang.Methods A total of 126 patients of diagnostic ITP and 94 healthy individuals were enrolled into study group and controls group.The Q63R polymorphism of CNR2 gene was amplified by PCR and followed by direct sequencing.Results Frequencies of genotypes QQ,QR and RR were 25%,54%and 21%in overall patients and 33%,44%and 23%in controls.There was no statistical significance on the difference between the two groups(P>0.05).The QQ type,QR type,and RR type in the acute immune thrombocytopenia group and chronic immune thrombocytopenia group were 24%,50%,26%and 25%,64%,and 11%,respectively,and there was no statistical significant difference in genotype distribution between the acute group,the chronic group,and the control group(P>0.05);while there was statistical significance on the difference in the genotype distribution between the chronic group and the control group(P<0.05).The cannabinoid receptor 2 allele frequencies Q and R of the case group and the control group were respectively 52%,48%,55%,and 45%,and there was no statistical significance on the difference between the two groups(P>0.05).The Q and R allele frequencies in the group were respectively 49%,51%,57%,and 43%,and there was no statistical significance on the difference in the allele frequency distribution between the acute group,the chronic group,and the control group(P>0.05).Conclusion The CNR2 polymorphism is hardly associated with the pathogenesis of ITP;the RR genotype and R allele may not have longer course and worse progress in children ITP.Whether RR genotype play an important role in predicting the progress of children ITP needs further study.

关 键 词：大麻素受体2基因 免疫性血小板减少性紫癜 基因多态性 

分 类 号：R554.6[医药卫生—血液循环系统疾病]