[Exon polymorphism of human RHD gene]
Hua-you Zhou1, Jiong-cai Lan, Xiao-zhu Wang
1Department of Blood Transfusion, Nanfang Hospital, First Military Medical University, Guangzhou 510515, China. zhy@fimmu.com
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.
Conclusion:
Polymorphism of the exon structure of RHD gene is present in RhD-negative individuals, characterized chiefly by gross deletion, partial deletion and non-deletion.
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