1例Del表型献血者RHD基因分析  

RHD Gene Analysis of A Blood Donor with Del Phenotype

作　　者：王志江 彭沫溱 张智慧 李茜 李秋进 苏品璨[1] WANG Zhi-Jiang;PENG Mo-Zhen;ZHANG Zhi-Hui;LI Qian;LI Qiu-Jin;SU Pin-Can(Yunnan Kunming Blood Center,Kunming 650106,Yunnan Province,China)

机构地区：[1]云南昆明血液中心,云南昆明650106

出　　处：《中国实验血液学杂志》2023年第3期843-849,共7页Journal of Experimental Hematology

基　　金：云南省临床医学中心分中心开放项目(2019LCZXKF-XY05);云南省临床医学中心分中心开放项目(2022LCZXKF-XY06);云南省科技厅科技计划项目(202201AY070001-223)。

摘　　要：目的:分析云南1例Del表型献血者的RHD基因型。方法:鉴定标本Rh血清学表型,对RHD基因进行PCR-SSP分型检测及10个外显子测序分析,扩增第9外显子进行克隆测序并分析序列,检测RHD基因合子型。结果:本研究病例标本Rh表型为CcD^(el)ee;RHD基因第9外显子包含第8内含子和第9内含子缺失共1003 bp,缺失发生在两个7 bp的短串联重复序列之间;其余外显子序列无变异;Rh杂交盒检测表明存在1条RHD阴性等位基因。结论:本研究病例标本为RHD基因第9外显子缺失导致的Del型。Objective: To analyze the RHD genotype of a blood donor with Del phenotype in Yunnan. Methods: Rh serological phenotype was identified. RHD gene was detected by PCR-SSP typing, and its 10 exons were sequenced. Exon 9 was amplified for sequencing and analysis. RHD zygosity was detected. Results: The Rh phenotype of this specimen was CcD^(el)ee. Genomic DNA exhibited a 1 003 bp deletion spanning from intron 8, across exon 9 into intron 9. The deletion breakpoints occurred between two 7-bp short tandem repeat sequences. There was no variation in the sequences of the remaining exons. The Rh hybridization box test showed that there was one RHD negative allele. Conclusion: This specimen is Del type caused by deletion of RHD exon 9.

关 键 词：RHD基因 基因缺失 DEL表型 短串联重复 滑链错配 

分 类 号：R457.11[医药卫生—治疗学]