背景:抗血型抗原的抗体在溶血性输血反应(HTRs)和胎儿和新生儿溶血性疾病(HDFN)的病理生理学中起关键作用。这项研究旨在确定等位基因的频率,基因型,以及东北泰国人临床上重要的血型系统同种免疫的风险。
方法:总共,345无关,健康,使用内部PCR序列特异性引物(PCR-SSP)方法对东北泰国人进行了测试,以同时对RHCE进行基因分型,凯尔,Duffy,基德,迭戈和MNS血型糖蛋白杂种和通过Sanger测序确认的结果。
结果:在此队列中,等位基因RHCE*C(81.0%)和RHCE*e(84.8%)高于RHCE*c(19.0%)和RHCE*E(15.2%)。RHCE等位基因最常见的预测单倍型组合是Cc-E-e+(R1R1)(59.4%),其次是C+c+E+e+(R1R2)(20.6%)和C+c+E-e+(R1r)(11.3%)。在本研究中未发现KEL*01等位基因。FY*01和FY*02的频率分别为88.3%和11.7%,分别。在四个样品(1.2%)中发现基因型FY*02/02。JK*01和JK*02的频率分别为52.5%和47.5%,分别。在81个样品(23.5%)中发现纯合JK*02/02。DI*01和DI*02的频率分别为0.6%和99.4%,分别。总的来说,发现64个样品(18.6%)携带MNS血型糖蛋白杂种。
结论:我们的结果表明C的风险可能很高,E,FYB,Jka,这些群体中的Jkb和Mia同种免疫。此外,在这项研究中建立的用于对临床上有意义的血型进行基因分型的方法现在可以用于常规的临床应用。
BACKGROUND: Antibodies against blood group antigens play a key role in the pathophysiology of haemolytic transfusion reactions (HTRs) and haemolytic disease of the fetus and newborn (HDFN). This study aimed to determine the frequencies of alleles, genotypes, and risk of alloimmunisation of clinically significant blood group systems in ethnic northeastern Thais.
METHODS: In total, 345 unrelated, healthy, ethnic northeastern Thais were tested using the in-house PCR-sequence specific primers (PCR-SSP) method for simultaneously genotyping of RHCE, Kell, Duffy, Kidd, Diego and MNS glycophorin hybrids and results confirmed by Sanger sequencing.
RESULTS: In this cohort, the alleles RHCE*C (81.0%) and RHCE*e (84.8%) were more prevalent than RHCE*c (19.0%) and RHCE*E (15.2%). The most common predicted haplotype combinations of the RHCE alleles were C+c-E-e+(R1R1) (59.4%) followed by the C+c+E+e+ (R1R2) (20.6%) and C+c+E-e+ (R1r) (11.3%). The KEL*01 allele was not found in this study. The frequencies of FY*01 and FY*02 were 88.3% and 11.7%, respectively. The genotype FY*02/02 was found in four samples (1.2%). The frequencies of JK*01 and JK*02 were 52.5% and 47.5%, respectively. Homozygous JK*02/02 was found in 81 samples (23.5%). The frequencies of DI*01 and DI*02 were 0.6% and 99.4%, respectively. In total, 64 samples (18.6%) were found to carry the MNS glycophorin hybrids.
CONCLUSIONS: Our results indicated a possible high risk of c, E, Fyb, Jka, Jkb and Mia alloimmunisation in these populations. Moreover, methods established for genotyping clinically significant blood groups in this study can now be utilised in routine clinical application.