摘要
目的观察中国人RhD和RhCE基因,研究RhD阴性的基因机制。方法采用PCR-SSP技术,检测了100例血清学试验RhD阳性,15例RhD阴性者的D外显子和RhCE基因。结果 RhD阳性者D基因无缺失,RhD阴性者D基因有完全缺失,部分缺失和无缺失3种类型。结论中国人Rh血型基因有多态性,在临床中具重要意义。
Objective To study exon polymorphism of human RHD gene and RhCE gene, investigate the genetic mechanism of RhD-negative individuals.Methods PCR using sequence-specific primers （PCR-SSP） was performed on 100 RhD-positive, 15 RhD- negative samples. Results All 8 exons could be detected in the 100 RhD. Out ofthe 15 RhD-negative sam ples,3（3.33%）carried 8 exons, 1 （6.7 % ）lost most of the 8 exons（Withmainly iuterulediate deletion）, and 12（80% ）had deletion of the 8 exons. Conclusion Polymorphism of the exon structure of RHD gene is presentin RhD-negative individuals, characterized chiefly by grossdeletion, partialeletiori and non-deletion.
出处
《中国实验诊断学》
北大核心
2010年第8期1242-1243,共2页
Chinese Journal of Laboratory Diagnosis
