Survey of GPI-PLD Gene Polymorphisms in Healthy Persons and Patients With Systemic Lupus Erythematosus
- VernacularTitle:正常人与系统性红斑狼疮患者白细胞GPI-PLD基因多态性分析
- Author:
Hong YU
;
Jianhua TANG
;
Yidan WANG
- Publication Type:Journal Article
- Keywords:
Glycosylphosphatidylinositol-specific phospholipaseD;
Single nucleotide polymorphism;
Polymorphism;
Systemic lupus erythematosus
- From:
Journal of Chinese Physician
2001;0(06):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the polymorphisms of glycosylphosphatidylinositol-specific phospholipase D (GPI-PLD) gene Exon1 and Exon25,GPI-PLD activity of leucocyte in peripheral blood and their relationship in systemic lupus erythematosus patients of Han nationality in Hunan Chinese.Methods The polymorphisms were analyzed by PCR-SSCP and sequencing. GPI-PLD levels were determined by using glycosylphosphatidylinositol (GPI) anchored placental alkaline phosphatase (PLAP) as substrate and triton-X114 partioning.Results There were fourteen variations in the coverage of GPI-PLD gene Exon 1 of both 109 healthy persons' and 62 systemic lupus erythematosus patients',including seven variations at transcriptional start site upstream and seven variations at Exon1. The codons of variation were 14TTG→AAG (Leu14Lys),17CTC→GTC (Leu17Val),20AGA→AAA (Arg20Lys),21GGT→GGG (Gly21Gly),30GTA→ATA (Val30Ile),which leaded to four missense mutations and one synonymous mutation. In addition, the frequency of the variation at transcriptional start site upstream -24 C→T was significantly different between healthy control and systemic lupus erythematosus patients. At meanwhile, there was a variation in Exon25, the +60496 G→A, between two groups. The total various frequency, which was determined by SSCP, of healthy person was 33 03 percent and systemic lupus erythematosus patient was 25 81 percent. On the basis of the percentage of GPI-anchored PLAP conversion, the leucocyte GPI-PLD activities of total 62 systemic lupus erythematosus patients were measured. As compared with 109 healthy persons as control group, the leukocyte GPI-PLD activities of systemic lupus erythematosus patients were significantly raised, but GPI-PLD activities were not correlated with polymorphism sites significantly.Conclusions The leukocyte GPI-PLD gene in peripheral blood, which belongs to healthy persons and systemic lupus erythematosus patients of Han mationality in Hunan Chinses,is polymorphism.The frequency of transcriptional start site upstream -24 is significantly different between healthy control and systemic lupus erythematosus patients.The leukocyte GPI-PLD activeties of patients' also significantly increase.
