Survey of GPI-PLD Gene Polymorphisms in Healthy Persons and Patients With Systemic Lupus Erythematosus
- Author:
- No author available
- Journal Title:
- JOURNAL OF CHINESE PHYSICIAN
- Issue:
- 6
- DOI:
- 10.3760/cma.j.issn.1008-1372.2003.06.002
- Key Word:
- 糖基化磷脂酰肌醇特异性磷脂酶D;单核苷酸多态性;多态性;系统性红斑狼疮
Abstract： 目的检测湖南地区汉族系统性红斑狼疮(systemic lupus erythematosus, SLE)患者外周血白细胞糖基化磷脂酰肌醇特异性磷脂酶D (glycosylphosphatidylinositol-specific phospholipase D, GPI-PLD) 基因外显子1及外显子25多态性、白细胞GPI-PLD活性及二者关系.方法聚合酶链式反应与单链构象多态性分析 (PCR-SSCP)、测序技术进行多态性分析,利用自制具完整糖基化磷脂酰肌醇 (GPI) 结构的胎盘碱性磷酸酶 (PLAP) 做底物通过TX-114分相,定量检测白细胞中GPI-PLD活性.结果湖南地区汉族62名SLE患者与109名正常人外周血白细胞GPI-PLD基因外显子1区均存在14处核苷酸改变:转录起始点上游-28 A→C、-21 C→T、-14 G→A、-13 G→C、-9 T→C、-8G→C、-7G→C、+4 T→G、密码子14TTG→AAG (Leu14Lys)、密码子17CTC→GTC (Leu17Val)、密码子20AGA→AAA (Arg20Lys)、密码子21GGT→GGG (Gly21Gly)、密码子30GTA→ATA (Val30Ile);另转录起始点上游-24 C→T仅存在于SLE人群中,此变异在两组人群中具有显著性差异;该基因外显子25,即+60496 G→A均存在于两组人群中.经SSCP检出阳性率分别为正常人33.03%,SLE患者25.81%.检测62例SLE患者外周血白细胞GPI-PLD活性(转化底物百分率),发现SLE患者酶活性较正常人(109名)显著性增高,但与多态性位点未见明显相关性.结论湖南地区汉族系统性红斑狼疮患者与正常人外周血白细胞GPI-PLD基因具有多态性,且位于转录起始点上游-24位变异在两组人群中有显著性差异;SLE患者白细胞GPI-PLD酶活性较正常人明显增高.
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