慢性髓细胞样白血病患者和正常人群短串联重复序列基因座频率的比较

摘要

目的 比较15个短串联重复序列(short tandem repeats,STR)基因座(D8S1179、D21Sll、D7S820、CSFl PO、D3S1358、TH01、D13S317、D16S539、D2S1338、D19S433、vWA、TPOX、D18S51、D5S818、FGA)在慢性髓细胞白血病(chronic myeloid leukemia,CML)患者和常州地区正常人群中的频率,并预测与CML的相关基因.方法 收集745份常州地区正常人以及132份CML缓解期患者的外周血样.用PCR荧光标记复合扩增系统对样本DNA进行基因型分析.比较两组人群的基因频率,并根据15个基因座等位基因频率的差异预测与CML相关的基因.结果 CML患者CSFlPO、vWA、TPOX基因座的等位基因型分布与正常人相比差异有统计学意义(P＜0.05),其余12个基因座等位基因的分布差异无统计学意义(P＞0.05).结论CSFlPO、vWA、TPOX基因座与CML的发生相关,但其生物学意义尚不清楚.%[Objective]To compare allelic frequencies of 15 short tandem repeat(STR)loci (D8Sl179,D21S11,D7S820,CSF1PO,D3S1358,TH01,D13S317,D16S539,D2S1338,D19S433,vWA,TPOX,D18S51,D5S818 and FGA) between chronic myeloid leukemia (CML) patients and non-related healthy individuals from Changzhou region in order to predict genes related with the CML.[Methods] Blood samples were collected from 745 healthy subjects and 132 CML patients with complete remission.Genotypes were determined with gene scan technology and multiplex PCR with fluorescence-labeled primers.Allelic polymorphisms of 15 STR loci were compared between the two groups.Potential genes related with CML were predicted with statistical analysis of differences in allelic frequencies.[Results] Allelic frequencies of 3 loci,including CSF1PO,vWA and TPOX,showed a significant difference (P＜ 0.05) between the two groups.[Conclusion] CSF1PO,vWA and TPOX loci may be related with CML,albeit that the exact biologic mechanisms is unclear.