慢性粒细胞白血病8p22杂合性缺失的检测及意义

Detection and Significance of Loss of Heterozygosity on 8p22 in Chronic Myeloid Leukemia

目的探讨8号染色体短臂(8p22)的杂合性缺失(LOH)在慢性粒细胞白血病(CML)发生和演变中的作用。方法采用多聚酶链反应(PCR)扩增、聚丙烯酰胺凝胶电泳和硝酸银染色技术,检测8p22上D8S511和D8S258位点的LOH。结果22例慢性期和8例加速期CML病人在8p22D8S511和D8S258位点均未发生LOH。4例急变期CML病人在D8S511位点上均未检出LOH,仅1例在D8S258位点发生LOH。5例正常对照组均未发生LOH。结论8p22上D8S511位点的LOH与CML各期的发生和演变无关;D8S258位点的LOH与CML慢性期和加速期的发生和演变无关,但可能与CML急变有关。

Objective To study the role of the loss of heterozygosity （LOH） on the chromosome 8p22 in the occurrence and development of the chronic myeloid leukemia （CML）. Method The LOH was observed in two microsatellite markers including D8S511 and D8S258 on 8p22 using polymerase chain reaction （PCR） amplification. Result No LOH on D8S511 and D8S258 occurred in 30 CML patients at chronic phase and accelerated phase. Also, no LOH on D8S511 occurred in 4 CML patients at blast crisis except the appearance of LOH on D8S258 in one patient. None of 5 normal controls had LOH. Conclusion The LOH on D8S511 within 8p22 is not correlated with the occurrence and development of CML at all stages. The LOH on D8S258 is not correlated with the occurrence and development of CML at chronic and accelerated phase, but may play a role in the acute transformation of CML.