Molecular mechanisms underlying DEL phenotype among ethnic Han individuals from Jiangsu.
- Author:
Qing CHEN
1
;
Sisi WANG
;
Jianyu XIAO
;
Ping LI
;
Chengyin HUANG
;
Genhong YAO
Author Information
- Publication Type:Journal Article
- MeSH: Alleles; Asian Continental Ancestry Group; ethnology; genetics; Base Sequence; Blood Donors; China; ethnology; Exons; Genotype; Humans; Male; Molecular Sequence Data; Phenotype; Polymorphism, Genetic; Rh-Hr Blood-Group System; genetics
- From: Chinese Journal of Medical Genetics 2016;33(2):240-243
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the molecular mechanism underlying the DEL phenotype among RhD negative ethnic Han individuals from Jiangsu, China.
METHODSThe DEL phenotype was determined by an adsorption elution test among 57 RhD negative blood donors. The Rh C, c, E, and e phenotypes were detected by a tube method. PCR with sequence-specific primering (PCR-SSP) assay was used to determine the RHCE genotypes. The RHD gene of the DEL individuals were amplified with polymerase chain reaction and subjected to Sanger sequencing analysis.
RESULTSAmong the 57 RhD negative donors, 10 (17.54%) were determined as having the DEL phenotype. The major RhCE phenotypes for DEL and RhD negative cases were RhCcee (80.0%) and Rhccee (61.7%), respectively. All RHD gene sequences of the 10 individuals have harbored a G>A mutation at position 1227 of exon 9.
CONCLUSIONA proportion of RhD negative individuals determined by routine serological method are actually DEL with RHD gene mutations. RHD *1227A is the most prevalent DEL genotype among ethnic Han Chinese from Jiangsu. Further research on the phenotype and underlying molecular mechanism of DEL is important for blood transfusion.
