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失活X染色体基因逃逸与系统性红斑狼疮的性别二态性
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作者 马茜 周少岚 +2 位作者 党洁 霍正浩 马占兵 《遗传》 CAS CSCD 北大核心 2024年第1期18-33,共16页
X染色体失活可平衡女性中两条X染色体的基因剂量。越来越多的证据表明,失活X染色体上存在许多能够逃逸失活的基因。逃逸的机制涉及到DNA、RNA、组蛋白的表观修饰以及众多的调控蛋白和染色质的空间结构。失活X染色体基因逃逸的研究为人... X染色体失活可平衡女性中两条X染色体的基因剂量。越来越多的证据表明,失活X染色体上存在许多能够逃逸失活的基因。逃逸的机制涉及到DNA、RNA、组蛋白的表观修饰以及众多的调控蛋白和染色质的空间结构。失活X染色体基因逃逸的研究为人类疾病(特别是自身免疫性疾病)性别二态性的研究开辟了新的途径。目前已证实包括TLR7、CD40L、IRAK-1、CXCR3、CXorf21等失活X染色体基因逃逸是系统性红斑狼疮(systemic lupus erythematosus,SLE)女性好发的重要原因。本文主要综述了失活X染色体上基因逃逸以及与SLE性别二态性形成的分子机制。阐明SLE性别二态性形成的分子机制,不仅对疾病的诊断、治疗具有重要意义,而且对深入揭示人类免疫系统的发育及调控机理也有重要的理论意义。 展开更多
关键词 失活X染色体 基因 逃逸 性别二态性 系统性红斑狼疮
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A variant in interleukin-2 gene is associated with repeated spontaneous abortion in Ningxia Han people
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作者 Liguo Pei Fan Yang +4 位作者 Chuan Zhang Mengjing Guo Junhua Bao Hong Lu zhenghao huo 《Open Journal of Obstetrics and Gynecology》 2013年第5期32-36,共5页
Background: Recurrent spontaneous abortion (RSA) is defined as the occurrence of three or more consecutive spontaneous abortion prior to 20 weeks from the last menstrual period. It affects approximately 1% to 2% of wo... Background: Recurrent spontaneous abortion (RSA) is defined as the occurrence of three or more consecutive spontaneous abortion prior to 20 weeks from the last menstrual period. It affects approximately 1% to 2% of women, and about 40% - 80% of RSA are still remained unexplained. In recent years, a lot of studies suggest that RSA is caused by the immune factors. T helper 1(Th1)-type immunity is associated with unsuccessful pregnancy especially in women with RSA, while Th2-type immunity is associated with pregnancy success. Interleukin (IL)-2 may influence Th1/Th2 immune responsiveness and has been implicated association with RSA. Aim: The aim of this study was to investigate the association of the interleukin 2 (IL-2) promoter polymorphisms at the site ‐330 A/C (rs2069762) with RSA. Methods: The study group comprised 189 women with RSA, and the control group consisted of 187 healthy pregnant women. Gene polymorphisms were detected by the technique of polymerase chain reaction restriction fragment length polymorphism. Results: The frequency of genotype ‐330C/C was significant higher (χ2 = 7.266, p = 0.007, OR = 0.362, 95% CI = 0.169 - 0.777) in the control group than in the patient group. And the frequency of the -330Aallele was significant higher (χ2 = 11.862, p = 0.001, OR = 1.741, 95% CI = 1.268 - 2.389) in the patient group than in the control group. Conclusions: This study indicated that the IL-2-330Aallele may be considered as a risk factor for RSA. C→A mutation is may associated with RSA in Ningxia Han people. 展开更多
关键词 Repeated SPONTANEOUS ABORTION INTERLEUKIN-2 POLYMORPHISM
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