TAP基因与妊娠期高血压疾病关系的初步探讨

Antigen Transporter Gene Polymorphism to Pre-eclampsia: a Preliminary Analysis

目的:探讨TAP(transporter associated with antigen processing)基因与妊娠期高血压疾病发病的相关性.方法:选取2002年6月至2005年9月在广州医学院第二附属医院就诊的30例重度子痫前期患者为研究对象,随机选择50例正常孕妇作为对照.所选孕妇均为初孕,无输血史,孕35～40周.各取2 mL外周静脉血抽提DNA,应用PCR-ARMS(扩增阻碍突变系统)方法检测TAP333、637、379、565、665 5个基因位点,分别对TAP基因的基因型、等位基因型、单倍体型进行统计分析.结果:在所有标本中,检出4种TAP1单倍体型及7种TAP2单倍体型,其中TAP2H未能检出.TAP2B(P＜0.01,RR=2.78),TAP2F(P＜0.05,RR=3.61)在妊娠期高血压疾病组中的分布频率显著高于对照组.余单倍体型在两组中的分布无统计学意义.TAP1及TAP2共10种等位基因及各种基因型在正常孕妇组和病例组分布频率的比较均无统计学意义.结论:TAP2B及TAP2F可能为妊娠期高血压疾病的易感基因.

Objective：To clarify whether the TAP gene is associated with pre-eclampsia in women. Methods： From June 2002 to September 2005, thirty-severe pre-eclampsia women from Second Hospital of Guangzhou Medical College were included as study group, and fifty normal pregnant women as control group. All pregnant women were primipara with single fetus. Genomic DNA was extracted from 2ml cubital venous blood. We used the amplification refractory mutation system （ARMS） polymerase chain reaction（PCR） to characterize TAP positions 333, 637, 379, 565 and 665. Results： There were four kinds of haplotypes （1A-1D） in TAP1 and seven kinds of haplotypes （2A-2G） in TAP2. The frequency of TAP2B （ P 〈 0. 01, RR = 2.78 ） and TAP2F （ P 〈 0. 05, RR = 3.61 ） in the pre-eclampsia group was significantly higher compared with that in the normal group. No differences were found about TAP genotypes and alleles between pre-eclampsia and normal pregnancy groups（ P 〉 0. 05 ）. Conclusions： the presence of TAP2B, or TAP2F haplotypes might contribute to susceptibility to pre-eclampsia.