【摘要】 目的调查洛阳地区汉族人群RHD基因的杂合情况。方法收集RhD阳性、弱D、RhDel及RhD阴性表型样本共387例,检测RHD基因的Up Box、Down Box及Hybrid Box,并判定个体的合子型。结果在所有387例样本中,94例(24.29%)为RHD+/RHD-杂合子,246例(63.57%)为RHD+/RHD+纯合子,47例(12.14%)为RHD-/RHD-纯合子。300例表型为RhD阳性样本中,RHD+/RHD+纯合子有236例(78.67%),其余64例(21.33%)为RHD+/RHD-杂合子;12例弱D样本中,RHD+/RHD+纯合子有5例(41.67%),其余7例(58.33%)为RHD+/RHD-杂合子;19例表型为RhDel样本中,RHD+/RHD+纯合子有6例(31.58%),其余13例(68.42%)为RHD+/RHD-杂合子;56例表型为RhD阴性样本中,47例(83.93%)为RHD-/RHD-纯合子,其余9例(16.07%)为RHD+/RHD-杂合子。结论 RHD基因合子型在不同RhD表型(RhD阳性、弱D、RhDel及RhD阴性)个体中的分布频率差异有统计学意义;研究本地区人群RHD基因杂合性,对产前预防RhD-HDN及临床输血具有重要的指导意义。更多还原

【Abstract】 Objective To investigate the RHD zygosity in Han ethnic population in Luoyang.Methods 387 samples of RhD positive,weak D,RhDel and RhD negative were collected.The Up Box,Down Box and Hybrid Box of RHD gene were delected,and RHD zygosity of the individuals were judged.Results In all the 387 samples,94(24.29%)were RHD+/RHDheterozygous,and 246(63.57%)were RHD+/RHD+ homozygous,only 47(12.14%)were RHD-/RHD- homozygous.But among 300 RhD positive samples,the RHD+/RHD+homozygous were 236(78.67%),and the RHD+/RHD- heterozygous were 64(21.33%).Among 12 weak D samples,the RHD+/RHD+ homozygous were 5(41.67%),and the RHD+/RHD- heterozygous were 7(58.33%).Among 19 RhDel samples,the RHD+/RHD+ homozygous were 6(31.58%),and the RHD+/RHD-heterozygous were 13(68.42%).Among 56 RhD negative samples,the RHD-/RHD-homozygous were 47(83.93%),and the RHD+/RHD-heterozygous were 9(21.33%).Conclusion The distribution of RHD zygosity in the various RhD phenotypes(RhD positive,weak D,RhDel and RhD negative)was different.It was of great guiding significance for clinical blood transfusion and prenatal prevention of RhD-HDN to study the RHD zygosity.更多还原