人RHD基因外显子多态性研究

南方医科大学学报 ›› 2004, Vol. 24 ›› Issue (05): 513-516.

人RHD基因外显子多态性研究

周华友¹, 兰炯采¹, 王晓珠², 王毅³, 樊红⁴, 孟庆宝⁵, 龚宏伟⁶

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

出版日期:2004-05-20 发布日期:2004-05-20
基金资助:
收稿日期:2003-11-24。
基金项目:国家自然科学基金(30271208)
作者简介:周华友(1968- ),男,第一军医大学在读博士研究生,主管检验师,电话:020-61365786,E-mail:zhy@fimmu.com

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. 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

摘要/Abstract

摘要： 目的研究人RHD基因外显子多态性,探讨中国人RhD阴性个体遗传学机制。方法用PCR-SSP法检测40例RhD(+)、120例RhD(-) 和2例弱D型样本的10个外显子。结果 40例RhD阳性和2例弱D型样本均检出RHD 基因的10个外显子,120例RhD阴性样本中28例样本的10个外显子全存在(占23.33%),19例样本10个外显子部分存在(占15.83%),大部分为中间缺失型,73例样本10个外显子全缺失(占60.83/%)。从120例RhD阴性样本中检出的19例Del型样本均能检出RHD 基因的10个外显子。结论 RhD表型阴性个体的RHD基因外显子结构具有多态性,主要表现为RHD基因全缺失、RHD基因部分缺失、RHD基因不缺失3种。

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.

中图分类号:

R446.11
R33

周华友¹, 兰炯采¹, 王晓珠², 王毅³, 樊红⁴, 孟庆宝⁵, 龚宏伟⁶. 人RHD基因外显子多态性研究[J]. 南方医科大学学报, 2004, 24(05): 513-516.

ZHOU Hua-you¹, LAN Jiong-cai¹, WANG Xiao-zhu², WANG Yi³, FAN Hong⁴, MENG Qing-bao⁵, GONG Hong-wei⁶. Exon polymorphism of human RHD gene[J]. Journal of Southern Medical University, 2004, 24(05): 513-516.

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