Journal of Southern Medical University ›› 2004, Vol. 24 ›› Issue (05): 513-516.

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Exon polymorphism of human RHD gene

ZHOU Hua-you1, LAN Jiong-cai1, WANG Xiao-zhu2, WANG Yi3, FAN Hong4, MENG Qing-bao5, GONG Hong-wei6   

  1. 1. 第一军医大学南方医院输血科, 广东, 广州, 510515;
    2. 秦皇岛市中心血站, 河北, 秦皇岛, 066000;
    3. 河北省血液中心, 河北, 石家庄, 050000;
    4. 锦州市红十字中心血站, 辽宁, 锦州, 121000;
    5. 深圳市人民医院输血科, 广东, 深圳, 518000;
    6. 江阴市中心血站, 江苏, 江阴, 214400
  • Online:2004-05-20 Published:2004-05-20

Abstract: 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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