摘要
本研究调查RHD1227A等位基因在Rh阴性人群和随机人群中的频率。采用等位基因特异-聚合酶链反应(allelespecific-polymerasechainreaction,AS-PCR)检测RHD1227A等位基因,RHD基因拷贝数采用D杂合性试验和RHD外显子9的核苷酸序列分析方法进行确定。结果表明在143例Rh阴性献血员中,共检测到41例RHD1227A等位基因携带者,其中8例(19.51%)为RhCCdee,32例(78.05%)为RhCcdee,1例(2.44%)为RhCcdEe。在这41例RHD1227A等位基因携带者中,35例有RHD基因的缺失,另外的6例是RHD1227A等位基因的纯合子。在489例随机献血员中检测到7例RHD1227A等位基因先证者,都是RHD1227G/A杂合子,且是正常Rh阳性血型。结论RHD1227A等位基因在Rh阴性人群中的频率为16.43%,在随机人群中的频率为0.72%。
To investigate the frequency of RHD 1227A allele in Rh negative population and random population, an AS - PCR （allele specific - polymerase chain reaction） method was emloyed to detect RHD 1227A allele. RHD gene copy was determined by D zygosity test and RHD exon 9 nucleotide sequence analysis. The results showed that among 143 Rh negative donors, forty-one RHD 1227A allele carders were detected, and 8 （ 19.51% ） out of which were RhC-Cdee, 32 （78.05%） were RhCcdee, and 1 （2.44%） was RhCcdEe. Thirty-five Rh negative RHD 1227A carriers had RHD gene deletion, and the remaining carriers were RHD 1227A homozygous. Seven （ 1.43% ） individuals were detected with RHD 1227A allele among 489 random donors. They were all G/A heterozygous at RHD 1227 site. Serological test indicated that they were normal Rh positive phenotype. It is concluded that the frequency of RHD 1227A allele is 16. 43% among Rh negative population and 0.72% among the random population.
出处
《中国实验血液学杂志》
CAS
CSCD
2006年第6期1234-1237,共4页
Journal of Experimental Hematology
基金
浙江省自然科学基金项目
编号M303194
