SPAG6在骨髓增生异常综合征患者中的表达及其基因启动子甲基化状态

陈亚; 蒋梅; 罗小华; 王利; 刘林

doi:10.16016/j.1000-5404.201904215

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SPAG6在骨髓增生异常综合征患者中的表达及其基因启动子甲基化状态

临床医学 | 更新时间：2026-01-09

- SPAG6在骨髓增生异常综合征患者中的表达及其基因启动子甲基化状态
- Expression level of sperm-associated antigen 6 and its gene promoter methylation status in myelodysplastic syndrome patients
- 第三军医大学学报 2019年41卷第18期页码：1776-1781
- 作者机构：
  
  400016 重庆，重庆医科大学附属第一医院血液内科
- 作者简介：
  
  [ 刘林，电话:(023)89011532，E-mail:liul7776@aliyun.com LIU Lin, Tel: 86-23-89011532, E-mail: liul7776@aliyun.com
- 基金信息：
  
  国家自然科学基金面上项目(81570109)
- DOI：10.16016/j.1000-5404.201904215
  中图分类号： R363.21;R394.3;R551.3
- 收稿：2019-04-29，
  
  修回：2019-07-03，
  
  纸质出版：2019-09-30
- 稿件说明：
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陈亚, 蒋梅, 罗小华, 等. SPAG6在骨髓增生异常综合征患者中的表达及其基因启动子甲基化状态[J]. 第三军医大学学报, 2019,41(18):1776-1781.

Ya CHEN, Mei JIANG, Xiaohua LUO, et al. Expression level of sperm-associated antigen 6 and its gene promoter methylation status in myelodysplastic syndrome patients[J]. Journal of Third Military Medical University, 2019, 41(18): 1776-1781.
陈亚, 蒋梅, 罗小华, 等. SPAG6在骨髓增生异常综合征患者中的表达及其基因启动子甲基化状态[J]. 第三军医大学学报, 2019,41(18):1776-1781. DOI： 10.16016/j.1000-5404.201904215.

Ya CHEN, Mei JIANG, Xiaohua LUO, et al. Expression level of sperm-associated antigen 6 and its gene promoter methylation status in myelodysplastic syndrome patients[J]. Journal of Third Military Medical University, 2019, 41(18): 1776-1781. DOI： 10.16016/j.1000-5404.201904215.

摘要

目的

探讨SPAG6在骨髓增生异常综合征(myelodysplastic syndrome，MDS)患者中的表达水平与临床参数相关性以及基因启动子甲基化状态对SPAG6转录调控的影响。

方法

采用RT-qPCR及Western blot检测18例MDS及MDS-AML患者和20例健康对照者骨髓细胞SPAG6表达水平；甲基化特异性PCR(MS-PCR)法检测MDS患者和对照组(包括初诊缺铁性贫血患者和健康体检人群)SPAG6启动子甲基化状态；分析SPAG6启动子甲基化状态及表达水平与患者临床参数相关性。

结果

与健康对照组比较，MDS患者SPAG6表达水平明显升高，且SPAG6启动子区域呈现异常低甲基化(

0.01)。SPAG6表达水平与患者年龄、骨髓原始细胞比例、危险分层有相关性(

0.05)，与患者性别无相关性(

0.05)。SPAG6基因启动子异常低甲基化状态与患者年龄、疾病危险分层有相关性(

0.05)，与患者性别、骨髓原始细胞比例无相关性(

0.05)。

结论

SPAG6在MDS患者中高表达，并且与疾病发生、进展以及不良预后相关，表观遗传调控可能是SPAG6转录调控的重要机制之一。

Abstract

Objective

To investigate the association between sperm-associated antigen 6 (SPAG6) expression level and the clinical parameters of patients with myelodysplastic syndrome (MDS) and explore how SPAG6 gene promoter methylation status regulates SPAG6 transcription.

Methods

Bone marrow mononuclear cells (BMMNCs) were collected from 18 patients with MDS or MDS-acute myeloid leukemia (MDS-AML) and 20 healthy control subjects for detection of SPAG6 expression using RT-qPCR and Western blotting. The methylation status of SPAG6 promoter in patients with MDS and the healthy controls was assessed using methylation-specific PCR (MS-PCR). The correlation of SPAG6 promoter methylation status and SPAG6 expression level with the clinical parameters of patients were analyzed.

Results

Compared with the healthy control subjects

the patients with MDS showed significantly increased expression levels of SPAG6 in the BMMNCs with significant abnormal hypomethylation in SPAG6 gene promoter region (

0.01). In the patients with MDS

the expression level of SPAG6 in the BMMNCs was significantly correlated with the patients' age

bone marrow blast cell ratio and risk stratification (

0.05) but not with the patients' gender (

0.05). The abnormal hypomethylation of SPAG6 gene promoter was significantly correlated with age and disease risk stratification (

0.05) but not with gender or bone marrow blast cell ratio (

0.05).

Conclusion

SPAG6 is highly expressed in the BMMNCs of patients with MDS

which is associated with the occurrence

progression and a poor prognosis of the disease. Epigenetic regulation can be an important mechanism for transcriptional regulation of SPAG6.

关键词

Keywords

references

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