一种生物信息启动的方法来评估GATA1调节区域在样本中具有弱D,Del或D-表型,尽管正常RHD外
Eunike C McGowan1, Ping Chun Wu1, Åsa Hellberg2
1Division of Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund University, Lund, Sweden.
概括
研究RHD基因中的GATA1结合基因揭示了一种新型的DEL基因,RHD c.1-110A>C,它破坏了促进体调节. 这一发现提供了关于弱RhD抗原表达的见解,尽管需要进一步的研究.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 免疫学 免疫学 免疫学
背景情况:
- 有超过360个血型抗原存在,包括RhD.
- 减少RhD抗原表达可能源于影响基因调节的非编码变异.
- 这项研究重点关注RHD基因中的GATA1调节动机.
研究的目的:
- 在RHD基因中以生物信息学方式评估GATA1结合的调节动机.
- 为了研究RHD表达弱或不存在但正常的RHD外形的样本.
主要方法:
- 在RHD.中将开放色素数据与GATA1图案候选者重叠.
- 定量PCR用于RHD发性.
- 桑格对RHD促进子和内子的测序.
- 电泳运动转移测定 (EMSA) 用于GATA1结合.
- 路西法酶测量转录活动.
主要成果:
- 在RHD监管区域中确定了五个GATA1模式候选者.
- 路西法酶试验显示,GATA1基因在内突1和2中的转录增强,特别是在R单元型变体中.
- 一种新的RHDc.1-110A>C变异在Del表型样本中破坏了促进子GATA1动机,由EMSA证实并降低了露西法酶活性.
- 两个样本被确定为D+/D-模拟生物.
结论:
- 生物信息分析发现了一种新的DEL基因 (RHD c.1-110A>C) 破坏了RHD促进体中的GATA1基因.
- 这种变异解释了一个弱D抗原表达的病例.
- 建议对GATA1点进行进一步的研究,以了解RHD基因调节.
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