急性白血病p16基因微卫星不稳定性及杂和性缺失的研究

Study of microsatellite instability and loss of heterozygosity linked to p16 gene in acute leukemia

目的分析急性白血病(AL)患者p16基因连锁的微卫星不稳定性(MSI)和杂和性缺失(LOH),了解p16基因改变与AL发生的关系。方法采用多重PCR方法检测53例AL患者骨髓及口腔黏膜细胞标本的p16基因连锁的3个微卫星位点(D9Sl62、D9S1748、D9S171),观察其MSI及LOH情况。结果53例AL患者中,MSI检出率为43.4%(23/53);位于9p21的p16基因连锁的微卫星D9Sl62、D9S1748、D9S171的LOH发生率分别为0(0/53)、5.7%(3/53)和9.4%(5/53),MSI发生率分别为13.2%(7/53)、7.6%(4/53)和7.6%(4/53)。结论AL患者p16基因连锁微卫星均可检测到高频率的MSI和LOH,说明p16基因突变与AL发生、发展有关。

[ Objective] To analyze p16 gene linked microsatellite instability（MST） and loss of heterozygosity（LOH） of acute leukemia（AL） and the relation between p16 gene change and AL. [ Methods] 3 microsatellite sites （D9S162, D9S1748 ,D9S171 ）linked to p16 gene were detected by multiplex-PCR in mouth cavity mucosa and bone marrow samples from 53 leukemia patients. MSI and LOH were obversed. [ Results ] The rate of MSI in 53 AL patients was 43.4% （23/ 53 ）. In pl6-1inked microsatellite D9SI62 ,D9SI748 and D9SI71 on 9p21 ,frequencies of LOH was 0（0/53） ,5.7 % （3/53） and 9.4% （5/53） respectively, frequencies of MSI were 13.2% （7/53） ,7.6% （4/53） and 7.6% （4/53） respectively. [ Conclusion] High frequency of MSI and LOH can be found in p16 gene-linked microsatellites in AL, it hints that p16 gene mutation has relation with genesis and development of AL.