摘要
目的研究中国汉族人群Diego血型系统中Dia和Dib抗原表达的分子遗传背景。方法采用血型血清学方法对2990例非血缘关系的捐血者进行Diego血型鉴定,从中随机选择20例表现型为Di(a-b+)的样本,以及筛选到的所有Di(a+b-)稀有血型样本,采用PCR-SSP、DNA直接测序方法分析Diego血型基因的分子遗传背景。结果2990例捐血者中,发现Di(a+b-)表现型2例,Di(a+b+)167例,Di(a-b+)2821例。随机选择的20例表现型为Di(a-b+)的DNA样本,经PCR-SSP法检测的基因型为DI2DI2,对DI基因第19外显子直接测序,2561位上碱基为C。2例稀有血型Di(a+b-)的DNA序列在19外显子2561位上碱基为T,基因型为DI1DI1。结论中国汉族人群Dia和Dib抗原表达的分子遗传基础是DI基因第19外显子2561位上碱基T-C的置换,引起第854位氨基酸的改变。
Objective To study the molecular genetic background of Diego blood group in Chinese Han population. Methods A total of 2 990 blood samples from unrelated blood donors were phenotyped for Dia and Dib by serological method. Twenty randomly selected samples of Di（a-b＋） type and all of the samples of rare Di（a＋b-） phenotype by screening were genotyped by PCR-SSP and direct DNA Sequencing. Resuits Of the 2990 samples identified by serological method, 2821 were Di（a-b＋）, 167 were Di（a＋b＋） and 2 were Di（a＋b-）. All of the 20 randomly-selected samples with Di（a-b＋） phenotype were DI2DI2 homozygote by PCR-SSP genotyping, with nucleotide C at nt position 2561 in exon 19 by direct sequencing of the DI gene. The 2 samples of rare Di （a＋b-） phenotype were both the DI1DI1 homozygote, with nucleotide T at nt position 2561 in exon 19. Conclusion Our results indicate that the expression of Dia and Dib antigens in Chinese Han population most likely result from a single nucleotide T to C substitution at nucleotide position 2561 in exon 19 of the DI gene, which subsequently leads to an amino acid 854 change from Pro to Leu.
出处
《法医学杂志》
CAS
CSCD
2007年第4期283-285,共3页
Journal of Forensic Medicine
基金
2006年广东省社会发展领域科技计划项目(63111)
作者简介
杨宝成（1958-），男，河北徐水人，硕士，副主任医师，主要从事输血医学、免疫遗传学研究和血站管理工作，（电子信箱）yangbaocheng2004@163．com。
