CAJ | 학술논문

目的探讨人类血小板同种抗原(human platelet alloantigen,HPA)-1～17w相关的血小板膜糖蛋白基因多态性.方法以自行设计的PCR引物特异性扩增HPA-1～17w相关的血小板膜糖蛋白基因片段,PCR产物经酶切纯化后直接进行DNA序列分析,根据序列特征确定HPA基因型和相应膜糖蛋白基因多态性.结果通过对112名随机汉族个体的糖蛋白基因序列分析,发现13个新的单核昔酸多态性位点和1个微卫星重复序列.其中ITGB3基因上的2个变异位点1333G/A和1960G/A引起膜糖蛋白GPⅢa的V419M和E628K氨基酸改变.结论膜糖蛋白基因具有多态性位点,可能引起膜糖蛋白结构的改变,同时可能影响现有部分HPA基因分型方法的准确性.
목적 탐토인류혈소판동충항원(human platelet alloantigen,HPA)-1～17w상관적혈소판막당단백기인다태성.방법 이자행설계적PCR인물특이성확증HPA-1～17w상관적혈소판막당단백기인편단,PCR산물경매절순화후직접진행DNA서렬분석,근거서렬특정학정HPA기인형화상응막당단백기인다태성.결과 통과대112명수궤한족개체적당단백기인서렬분석,발현13개신적단핵석산다태성위점화1개미위성중복서렬.기중ITGB3기인상적2개변이위점1333G/A화1960G/A인기막당단백GPⅢa적V419M화E628K안기산개변.결론 막당단백기인구유다태성위점,가능인기막당단백결구적개변,동시가능영향현유부분HPA기인분형방법적준학성.
Objective To investigate the polymorphisms of platelet membrane glycoprotein genes related to human platelet alloantigen (HPA)-1 to 17w. Methods The DNA segments of platelet membrane glycoprotein genes related to HPA-1 to 17w were amplified using author' s designed primers. The amplification products were purified and directly sequenced to identify the HPA genotype and glycoprotein gene polymorphisms. Results Thirteen new single nucleotide polymorphisms (SNPs) and a micro-satellite sequence were found in the glycoprotein genes from the 112 random samples, in which two SNPs (1333G/Aand 1960G/A) in ITGB3 gene result in two amino acid change (V419M and E628K) on glycoprotein GPⅢ a.Conclusion New variants in platelet membrane glycoprotein genes were identified, which may lead to structure change of platelet membrane glycoprotein and affect the accuracy of partial HPA genotyping method.