摘要
本研究探讨中国哈尔滨地区献血人群RhDel表型表达的分子机制。应用血清学及分子生物学方法,对374例经间接抗人球蛋白试验确认为RhD阴性的献血者进行红细胞RHD血型基因分型和RH基因变异体检测,并对无法确定RHD基因型别的特殊样本进行测序分析。结果表明,374例阴性献血者样本中共检出RHD Del型62例,占16.6%。其中RHD 1227A型61例,发现中国人中罕见的RHD Del(cde)1等位基因1例。经测序分析,检出存在RHD711DelC等位基因者11例。另外,在3份样本中发现了新等位基因突变点。结论:RHD1227A等位基因是中国哈尔滨地区Del表型人群所普遍携带的等位基因,是Del表型个体的重要遗传标记。
This study was aimed to explore the molecular mechanism of RhDel phenotype expression in blood donors of Chinese Harbin area. Three hundred and seventy-four RhD negative donors confirmed by indirect antiglobulin test were detected by using serological and molecular methods for red blood cell RhD blood group genotyping and RH gene variant detection. And the other special samples of undetermined RhD genetype were sequenced. The results showed that 62 cases of Del type were detected in 374 negative blood donors' samples, accounting for 16.6%, among them there were 61 cases of RHD1227A, and 1 case of rare RHD Del (cde)l allele was found. Sequencing analysis indicated that RHD711DelC allele existed in 11 cases. In addition, the new mutant alleles were found in 3 samples. It is concluded that RHD1227A allele is generally carried allele in Del phenotype population of Chinese Harbin area and is an important genetic marker in Del phenotype individual.
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2012年第6期1478-1481,共4页
Journal of Experimental Hematology
基金
哈尔滨市科技局青年科技创新人才项目(编号:RC2010QN004069)