Li Yuan, Zhao Yan-hui, Zhang Wei-yuan, Cui Man-hua
Department of Obstetrics, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.
Zhonghua Fu Chan Ke Za Zhi. 2008 Dec;43(12):909-12.
To analyze the killer cell immunoglobulin-like receptors (KIR) gene polymorphism of pre-eclampsia patients and approach the correlation between KIR genes and pre-eclampsia.
The KIR gene polymorphisms of 71 pre-eclampsia patients and 100 healthy pregnant women were detected by PCR-SSP. The KIR2DL4 mRNA level in placentas from pre-eclampsia and gestational normal pregnancies were quantified by real time RT-PCR. Forty pre-eclampsia patients and 38 healthy pregnant women were detected for single nucleotide polymorphisms (SNP) in the gene coding and joint areas between introns and extrons by directly sequencing techniques of KIR2DL4 genomic DNA. Finally, all alleles and genotypes of KIR2DL4 gene were case-control studied.
Distributions of some relatively activating KIR genotypes shewed a significant association with pre-eclampsia. Real-time RT-PCR showed that KIR2DL4 mRNA can be measured both in placenta of women with pre-eclampsia being of pre-eclampsia was significantly lower than that of normal pregnancy, only as much as 0.276 times that of controls. We identified 18 polymorphisms, of which, 7 were first reported. But no significant differences in genotype distributions or allele frequencies were observed in these SNPs between cases and controls.
The distributions of some relatively activating KIR genotypes showed a significant association with pre-eclampsia, which indicates that the polymorphism of KIR genes may be associated with the genetic predisposition to pre-eclampsia. And because the expression of KIR2DL4 mRNA in the placentas of cases was significantly lower than control group, it is speculated that the decrease of KIR2DL4 expression in placenta may participate in the pathogenesis of pre-eclampsia.
分析子痫前期患者杀伤细胞免疫球蛋白样受体(KIR)基因多态性,探讨KIR基因与子痫前期的相关性。
采用聚合酶链反应-序列特异性引物(PCR-SSP)技术检测71例子痫前期患者和100例正常孕妇的KIR基因多态性。采用实时逆转录聚合酶链反应(RT-PCR)定量检测子痫前期患者和正常妊娠孕妇胎盘组织中KIR2DL4 mRNA水平。采用KIR2DL4基因组DNA直接测序技术,检测40例子痫前期患者和38例正常孕妇KIR2DL4基因编码区及内含子与外显子交界区的单核苷酸多态性(SNP)。最后,对KIR2DL4基因的所有等位基因和基因型进行病例对照研究。
部分相对活化的KIR基因型分布与子痫前期显著相关。实时RT-PCR显示,子痫前期患者胎盘组织中可检测到KIR2DL4 mRNA,且子痫前期患者胎盘组织中KIR2DL4 mRNA水平显著低于正常妊娠孕妇,仅为对照组的0.276倍。共鉴定出18个多态性位点,其中7个为首次报道。但病例组与对照组这些SNP的基因型分布和等位基因频率无显著差异。
部分相对活化的KIR基因型分布与子痫前期显著相关,提示KIR基因多态性可能与子痫前期的遗传易感性有关。且由于子痫前期患者胎盘组织中KIR2DL4 mRNA表达显著低于对照组,推测胎盘组织中KIR2DL4表达降低可能参与子痫前期的发病机制。