Genotyping and sequence analysis of Rh deletion D——individuals and their family members / 中国输血杂志

ABSTRACT

Objective To study the molecular mechanisms of Rh deletion D--individuals.Methods Several exons and introns of RHD and RHCE gene were amplified by PCR-SSP.The abnormally amplified segments,which were inconsistent with serologic phenotyping,were cloned and sequenced.Results Fragments of D,e gene were amplified in two RhD--individuals.After sequencing,deletion at nucleotide 22 in exon 5,and point mutations at codon 48 and 90 were found in one individual.Mutation at codon 48 in exon 5 were found in another.Conclusion Exon deletion of Rh gene,along with deletion and mutation of single nucleotide may cause Rh deletion D--.