[Exon polymorphism of human RHD gene].
OBJECTIVE
To study exon polymorphism of human RHD gene and investigate the genetic mechanism of RhD-negative individuals.


METHODS
PCR using sequence-specific primers (PCR-SSP) was performed on 40 RhD-positive, 120 RhD-negative and 2 weak D blood samples.


RESULTS
All 10 exons could be detected in the 40 RhD-positive and 2 weak D samples. Out of the 120 RhD-negative samples, 28 (23.33%) carried 10 exons, 19 (15.83%) lost most of the 10 exons (with mainly intermediate deletion), and 73 (60.83%) had deletion of all the 10 exons; 19 samples of Del phenotype identified from the 120 RhD-negative samples had all the 10 exons.


CONCLUSIONS
Polymorphism of the exon structure of RHD gene is present in RhD-negative individuals, characterized chiefly by gross deletion, partial deletion and non-deletion.
Zhou
Hua-you
HY
Department of Blood Transfusion, Nanfang Hospital, First Military Medical University, Guangzhou 510515, China. zhy@fimmu.com
Lan
Jiong-cai
JC
Wang
Xiao-zhu
XZ
Wang
Yi
Y
Fan
Hong
H
Meng
Qing-bao
QB
Gong
Hong-wei
HW
D044466:Asian People; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012204:Rh-Hr Blood-Group System / Q000235:genetics*
D012204:Rh-Hr Blood-Group System