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 CcDelee. 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.
题目: 1例Del表型献血者RHD基因分析.
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CcDelee；RHD基因第9外显子包含第8内含子和第9内含子缺失共1 003 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。.
Keywords:
slipped-strand mispairing; Del phenotype;