摘要
目的 :为了探讨D放散型 (Del)表型的分子基础。方法 :采用序列分析方法分析 2 6名Del表型个体RHD基因全长编码区和一名个体的RHD基因第 7内含子部分序列 ;同时使用血清学方法检测全部个体的RhCcEe表型。结果 :全部样品的第 9外显子均存在RHD 12 2 7G >A碱基突变 ,其余序列则与正常RHD基因一致 ,一名个体的第 7内含子观察到一处碱基突变RHDIVS7+15 2c >a ;血清学结果显示所有Del表型个体均为RhC抗原阳性个体。结论 :由于 12 2 7A位于RHD基因第 9外显子与第 9内含子交界处 ,可能影响前RNA转录后mRNA的正常拼接 ,形成Del表型。
Objective:To explore molecular mechanism of the D el phenotype.Methods:The whole length coding region of the RHD gene in 26 D el samples from Chinese and part of intron 7 in one of the samples were amplified and sequenced. Additionally, the Rh C, c, E and e phenotypes were determined by serological tests.Results:All of 26 samples have one same silent mutation 1227G>A at the exon 9/intron 9 boundary of the RHD gene while the remaining coding sequence is identical with normal RHD. In one sample an intron mutation (RHD IVS7+152c>a) was observed. Furthermore the serological results indicate that all D el individuals possess at least one C antigen.Conclusion:The 1227G>A mutation might affect the RhD mRNA splicing after transcription and may be the cause of the D el phenotype. [
出处
《中国免疫学杂志》
CAS
CSCD
北大核心
2003年第9期631-632,640,共3页
Chinese Journal of Immunology
