Molecular mechanisms underlying DEL phenotype among ethnic Han individuals from Jiangsu / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 240-243, 2016.
Article
in Zh
| WPRIM
| ID: wpr-247697
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore the molecular mechanism underlying the DEL phenotype among RhD negative ethnic Han individuals from Jiangsu, China.</p><p><b>METHODS</b>The 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.</p><p><b>RESULTS</b>Among 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.</p><p><b>CONCLUSION</b>A 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.</p>
Full text:
1
Database:
WPRIM
Main subject:
Phenotype
/
Polymorphism, Genetic
/
Rh-Hr Blood-Group System
/
Blood Donors
/
Molecular Sequence Data
/
Base Sequence
/
China
/
Exons
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Asian People
/
Alleles
Limits:
Humans
/
Male
Country/Region as subject:
Asia
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Document type:
Article