小儿急性白血病免疫球蛋白重链基因和T细胞受体δ基因分析  

Analysis of IgH gene and TCRδ gene in children withacute leukemia

作　　者：潘秋炉[1] 仇一华 洪文澜[1] 卢健[1] 郭淑芬[1] 沈红强[1] 徐淑芝[1] 陈诗书[1] 

机构地区：[1]浙江医科大学附属儿童医院,上海第二医科大学分子生物学实验室

出　　处：《中华医学杂志》1995年第9期529-531,共3页National Medical Journal of China

基　　金：国家自然科学基金

摘　　要：为了进一步探讨小儿急性白血病（ＡＬ）的基因诊断方法，作者应用聚合酶链反应（ＰＣＲ）技术，结合ＤＮＡ印迹和ＤＮＡ序列分析对小儿ＡＬ初诊的骨髓标本进行免疫球蛋白重链（ＩｇＨ）基因、Ｔ细胞受体δ（ＴＣＲδ）基因重排和Ｔ细胞ＡＬ－ｌ（Ｔａｌ－ｌ）基因丢失的分析。（１）１０２例ＡＬ患儿ＩｇＨ基因重排的ＰＣＲ结果为３７例出现单一条带，１３例出现双条带，在Ｂ细胞系急性淋巴细胞白血病（ＡＬＬ）中的阳性率为７５．５％（３７／４９），有系列特异性。６例ＩｇＨ基因重排ＰＣＲ产物序列分析结果为：同源性小，Ｊ基因参与重排有偏向性。（２）７８例ＡＬＬ的Ｖδ２－Ｄδ３基因重排ＰＣＲ分析结果为：３０例出现单一条带，６例出现双条带，多见于Ｂ细胞系ＡＬＬ及相关ＨＡＬ，１例ＰＣＲ产物序列分析Ｖδ２－Ｄδ２－Ｎ－Ｄδ３基因重排。（３）７０例Ｔａｌ基因丢失分析为：３例阳性，并且均为胸腺Ｉ期Ｔ－ＡＬＬ。（４）对３例患儿ＩｇＨ基因重排ＰＣＲ动态观察，结果２例分别在完全缓解（ＣＲ）１５个月和ＣＲ２０个月时转阴，另１例出现克隆变异。说明对这些基因的ＰＣＲ分析有助于白血病克隆性的诊断和基因分型，ＰＣＲ产物序列分析可为进一步制备克隆特异性探针提供序列信息，Ｉｇ?gH gene, TCRδ gene rearrangements and Tal-lgene deletion were analysed by using PCR, Southernblot and DNA sequencing methoos in newly diagnosedBM samples from children with AL. The DNAs fromleukemic cells in 102 children were detected with PCR.The results showed that IgH gene rearrangement main-ly occurred in B Precursor ALL (37/49). Six PCRproducts were further analysed by DNA sequencing.Less homogene and biasof JH gene usage were foundin analysed DNA sequences. Vδ2-Dδ3 rearrangementof 78 samples from ALL was analysed with PCRmethod. Vδ2-Dδ3 rearrangements mainly observed inB precursor ALL and related HAL. Vδ2-Dδ2-N-Dδ3rearrangement was found in a sequence of PCR prod-uct. Three cases of Tal-l gene deletion were observedin all studied 70 samples of AL. They all were in stageI of thymus differentiantion. We conclud that PCR de-tection of those genes are useful in the diagnosis ofclonality of AL, DNA sequencing of PCR preducts isthe base of preparing clonal specific probes, and dy-namic analysis of IgH gene rearrangement using PCRmay be helpful in detection of residual clones.

关 键 词：儿童 白血病 免疫球蛋白重链 基因 PCR 

分 类 号：R733.710.2[医药卫生—肿瘤]