Genotyping and sequence analysis of Rh deletion D——individuals and their family members
- VernacularTitle:Rh缺失型D--个体及其家系成员基因分型与序列分析
- Author:
Bijuan LI
;
Fen YUAN
;
Ning LI
- Publication Type:Journal Article
- Keywords:
Rh blood group;
Rh deletion D--;
PCR-SSP;
Genotyping
- From:
Chinese Journal of Blood Transfusion
1988;0(04):-
- CountryChina
- Language:Chinese
-
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--.
