RHD Gene Analysis of A Blood Donor with Del Phenotype.
10.19746/j.cnki.issn.1009-2137.2023.03.033
- Author:
Zhi-Jiang WANG
1
;
Mo-Zhen PENG
1
;
Zhi-Hui ZHANG
1
;
Qian LI
1
;
Qiu-Jin LI
1
;
Pin-Can SU
2
Author Information
1. Yunnan Kunming Blood Center, Kunming 650106, Yunnan Province, China.
2. Yunnan Kunming Blood Center, Kunming 650106, Yunnan Province, China.E-mail：abc123586@sina.com.
- Publication Type:Journal Article
- Keywords:
slipped-strand mispairing;
Del phenotype;
gene deletion;
short tandem repeat
- MeSH:
Humans;
Blood Donors;
Rh-Hr Blood-Group System/genetics*;
China;
Phenotype;
Exons;
Genotype;
Alleles
- From:
Journal of Experimental Hematology
2023;31(3):843-849
- CountryChina
- Language:Chinese
-
Abstract:
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.
