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本文引用的文献

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Biochemical and functional comparisons of Mcl-1 and Bcl-2 proteins: evidence for a novel mechanism of regulating Bcl-2 family protein function.Mcl-1 和 Bcl-2 蛋白的生化和功能比较：调节 Bcl-2 家族蛋白功能的新机制证据。
Cell Death Differ. 1995 Jul;2(3):173-82.
2
Antisense oligonucleotides complementary to Bax transcripts reduce the susceptibility of B-cell chronic lymphocytic leukaemia cells to apoptosis in a bcl-2 independent manner.与Bax转录本互补的反义寡核苷酸以不依赖bcl-2的方式降低B细胞慢性淋巴细胞白血病细胞对凋亡的敏感性。
Leuk Lymphoma. 2002 Oct;43(10):2003-9. doi: 10.1080/1042819021000015961.
3
Chronic lymphocytic leukemia.慢性淋巴细胞白血病
Hematology Am Soc Hematol Educ Program. 2002:193-213. doi: 10.1182/asheducation-2002.1.193.
4
The pattern of CD38 expression defines a distinct subset of chronic lymphocytic leukemia (CLL) patients at risk of disease progression.CD38表达模式定义了有疾病进展风险的慢性淋巴细胞白血病（CLL）患者的一个独特亚组。
Blood. 2003 Feb 15;101(4):1262-9. doi: 10.1182/blood-2002-06-1801. Epub 2002 Oct 24.
5
CD38 expression in B-chronic lymphocytic leukemia: association with clinical presentation and outcome in 155 patients.B 细胞慢性淋巴细胞白血病中 CD38 的表达：155 例患者的临床表现及预后相关性
Haematologica. 2002 Oct;87(10):1021-7.
6
Association of a novel single nucleotide polymorphism, G(-248)A, in the 5'-UTR of BAX gene in chronic lymphocytic leukemia with disease progression and treatment resistance.慢性淋巴细胞白血病中BAX基因5'-非翻译区新型单核苷酸多态性G(-248)A与疾病进展及治疗耐药性的关联
Cancer Lett. 2002 Dec 10;187(1-2):199-205. doi: 10.1016/s0304-3835(02)00378-6.
7
V(H) mutation status, CD38 expression level, genomic aberrations, and survival in chronic lymphocytic leukemia.慢性淋巴细胞白血病中的V(H)突变状态、CD38表达水平、基因组畸变与生存情况
Blood. 2002 Aug 15;100(4):1410-6.
8
Multivariate analysis of prognostic factors in CLL: clinical stage, IGVH gene mutational status, and loss or mutation of the p53 gene are independent prognostic factors.慢性淋巴细胞白血病预后因素的多变量分析：临床分期、免疫球蛋白重链可变区（IGVH）基因突变状态以及p53基因缺失或突变是独立的预后因素。
Blood. 2002 Aug 15;100(4):1177-84.
9
Molecular diagnostics in preimplantation genetic diagnosis.植入前基因诊断中的分子诊断学
J Mol Diagn. 2002 Feb;4(1):11-29. doi: 10.1016/S1525-1578(10)60676-9.
10
Update on the biology of chronic lymphocytic leukemia.慢性淋巴细胞白血病生物学进展
Curr Opin Oncol. 2000 Jan;12(1):22-9. doi: 10.1097/00001622-200001000-00004.

B细胞慢性淋巴细胞白血病中BAX启动子G(-248)A核苷酸变化的分子检测

Molecular detection of the G(-248)A BAX promoter nucleotide change in B cell chronic lymphocytic leukaemia.

作者信息

Moshynska O, Sankaran K, Saxena A

机构信息

Department of Pathology, Royal University Hospital and College of Medicine, University of Saskatchewan, Saskatoon SK S7N 0W8, Saskatchewan, Canada.

出版信息

Mol Pathol. 2003 Aug;56(4):205-9. doi: 10.1136/mp.56.4.205.

DOI:10.1136/mp.56.4.205
PMID:12890741
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1187322/
Abstract

BACKGROUND

A novel single nucleotide polymorphism (SNP), G(-248)A, in the 5' untranslated region of the BAX promoter and its association with reduced protein expression, progression beyond Rai stage 0, and treatment resistance in chronic lymphocytic leukaemia (CLL) has been reported previously.

AIM

To develop a restriction enzyme analysis (REA) based method for routine detection of BAX promoter SNP in a clinical laboratory.

METHODS

The BAX promoter was analysed in duplicate by REA and sequencing in 90 samples (from 45 patients with CLL, 43 controls, and two cell lines). The promoter region was amplified, digested with restriction endonucleases (Aci I and Tau I), and separated by gel electrophoresis.

RESULTS

After digestion, the normal GG genotype samples produced three distinct bands. The homozygous AA replacement abolished the cleavage site, resulting in a single band. Although the heterozygous samples produced three bands, the two smaller visible bands were reduced in intensity (> 50%). The test characteristics of Aci I REA were better than those of Tau I REA, in terms of sensitivity (100% v 77.8%), specificity (98.6% v 92.3%), positive predictive value (95.03% v 87.4%), and negative predictive value (100% v 85.83%).

CONCLUSIONS

REA using Aci I is a highly sensitive and specific method for detecting the BAX G(-248)A SNP in CLL.

摘要

背景

先前已有报道称，BAX启动子5'非翻译区存在一种新型单核苷酸多态性（SNP），即G(-248)A，其与慢性淋巴细胞白血病（CLL）中蛋白质表达降低、Rai分期超过0期以及治疗耐药相关。

目的

开发一种基于限制性酶切分析（REA）的方法，用于临床实验室常规检测BAX启动子SNP。

方法

采用REA和测序对90份样本（来自45例CLL患者、43例对照和2种细胞系）的BAX启动子进行了重复分析。扩增启动子区域，用限制性内切酶（Aci I和Tau I）消化，然后通过凝胶电泳分离。

结果

消化后，正常GG基因型样本产生三条明显的条带。纯合子AA替代消除了切割位点，产生一条单带。虽然杂合子样本产生三条带，但两条较小的可见带强度降低（>50%）。就敏感性（100%对77.8%）、特异性（98.6%对92.3%）、阳性预测值（95.03%对87.4%）和阴性预测值（100%对85.83%）而言，Aci I REA的检测特性优于Tau I REA。

结论

使用Aci I的REA是检测CLL中BAX G(-248)A SNP的一种高度敏感和特异的方法。