抗原加工相关转运体基因多态性及夫妻共享率与妊娠期高血压疾病的相关性  

Investigating the correlation between polymorphisms with couple sharing rate of TAP gene and hypertensive disorder complicating pregnancy

作　　者：高眉扬[1] 吴爱华[1] 温春霞 佘达贤[1] 陈盛强[3] 

机构地区：[1]广州医学院第二附属医院产科,510260 [2]广东省连州市妇幼保健院 [3]广州医学院第二附属医院中心实验室,510260

出　　处：《中华医学遗传学杂志》2006年第2期165-168,共4页Chinese Journal of Medical Genetics

基　　金：广东省卫生厅资助项目(A2001278);广东省自然科学基金(04009570);广州市教育局资助项目(01-12)~~

摘　　要：目的基于妊娠期高血压疾病的免疫病因学，通过测定重度子瘸前期患者和正常孕妇抗原加工相关转运体（transporter associated with antigen processing，TAP）基因（TAP）多态性及夫妻共享率来探讨该基因与妊娠期高血压疾病发病的相关性。方法取102例重度子痫前期患者及其配偶为研究对象，随机选择200名正常孕妇及其配偶作为对照。所选孕妇均为初孕，无输血史，孕35～40周。各取2mL外周静脉血抽提DNA，应用PCR-扩增阻碍突变系统方法检测TAP333、637、379、565、665五个基因位点，分别对TAP基因的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（x^2=9．19，P〈0．01，RR=4．18），TAP2F（x^2=5．34，P〈0．05，RR=4．63）在子痫前期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差异无统计学意义。TAP1B（X^2=4．87，P〈0．05，RR=3．14），TAP1C（x^2=5．42，P〈0．05，RR=4．90），TAP2B（x^2=9．65，P〈0．01，RR=5．39）在子痫前期组与正常孕妇组的夫妻共享率比较，子瘸前期组的夫妻共享率显著增高，有统计学意义。结论TAP2B和TAP2F可能使妊娠期高血压疾病的易感性增高。TAPIB，TAPIC，TAP2B基因共享率升高时，母胎相容性增大，妊娠期高血压疾病发生的可能性增加。Objective To investigate and clarify whether the genetic susceptibility to women with hypertensive disorder complicating pregnancy or pre-eclampsia is associated with po.lymorphisms and couple sharing rate of transporter associate with antigen processing genes （ TAP）. Methods One hundred and two severe pre-eclampsia women and their spouses served as study group, and 200 normal pregnant women and their spouses were selected as control group. All pregnant women were primipara with single fetus. Genomic DNA was extracted from 2 mL cubital venous blood. We used the amplification refractory mutation system polymerase chain reaction （ARMS-PCR） to characterize TAP gene locus 333, 637, 379, 565, 665. Results We observed eleven TAP haplotypes. There were four kinds of haplotypes （1A- 1D） existing in TAP1, and seven kinds of haplotypes （2A-2G） existing in TAF2. The gene frequencies of TAF2B（x^2 = 9.19, P 〈 0.01, RR = 4.18） and TAP2F（x^2 = 5.34, P 〈 0.05, RR = 4.63） of patient group with pre-eclampsia were significantly higher as compared with control group. The analyses of some TAP haplotypes such as TAP1B （ x^2 = 4.87, P 〈 0.05, RR = 3.14） ,TAP1C（x^2 = 5.42, P 〈 0.05, RR = 4.90） ,TAP2B（x^2 = 9.65, P 〈 0.01 ,RR = 5,39） showed that the couple sharing rate of pre-eclampsia women and their spouses had statistically a highly significant increase in comparison with that of controls. Conclusion Our data suggest that the presence of TAP2B or TAP2F haplotypes should be considered as a risk increased to pregnant women being susceptible to hypertensive disorder complicating pregnancy; and also the elevated couple sharing rates of TAPIB, TAPIC and TAP2B genes will increase the opportunity or possibili- ty of pregnant women suffering from pre-eclampsia disease.

关 键 词：子痫前期 抗原加工转运体 遗传多态性 夫妻共享率 

分 类 号：R714.246[医药卫生—妇产科学] R730.3[医药卫生—临床医学]