江苏地区骨髓库志愿者HLA-B*15组基因多态性研究及临床意义
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Analysis of HLA-B*15 gene polymorphism of registered bone marrow from donors in Jiangsu and its clinical significance
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    摘要:

    目的:调查江苏骨髓库志愿者HLA-B*15等位基因的分布特征,研究其可能对临床供体选择的影响以及相关疾病-方法:利用聚合酶链反应-碱基序列直接测序(PCR-SBT)方法对3 238例江苏人群HLA-B位点的2-3-4外显子序列进行分型,计算HLA-B*15等位基因频率,并与不同人群进行比较-结果:本研究中检出的21种HLA-B*15等位基因有: B*1501(B62),B*1502(B75),B*1503(B72),B*1505(B62),B*1507(B62),B*1508(B75),B*1510(B71),B*1511(B75),B*1512(B76),B*1513(B77),B*1517(B63),B*1518(B71),B*1521(B75),B*1525(B62),B*1527(B62),B*1529(B15),B*1532(B62),B*1535(B62),B*1546(B72),B*1558(B62),B*1568(B35)-其中以B*1501(4.69%)最常见,其次为B*1511(2.55%),B*1502(2.10%),B*1518(1.34%),B*1527(1.27%)-结论:在江苏汉族人群中HLA-B*15等位基因水平表现出丰富的多态性,利用其分布特点,为临床移植供者选择和HLA相关疾病分析提供了依据-

    Abstract:

    Objective:To investigate the characteristics of the allele distribution of HLA-B*15 gene family in Jiangsu population, then to study its influence on the selection of clinical transplantation donor and HLA related diseases. Methods:A total of 3 238 cord blood samples from Jiangsu Cord Blood Bank were analyzed by sequence-based typing. Then the sequences encompassing exon 2,3, and 4 for HLA-B gene were typed by direct sequencing of PCR products. The gene frequencies distribution of HLA-B in this population was compared with that in other populations. Results:A total of 21 different HLA-B*15 alleles were detected: B*1501(B62),B*1502(B75),B*1503(B72),B*1505(B62),B*1507(B62),B*1508(B75),B*1510(B71),B*1511(B75),B*1512(B76),B*1513(B77),B*1517(B63),B*1518(B71),B*1521(B75),B*1525(B62),B*1527(B62),B*1529(B15),B*1532(B62),B*1535(B62),B*1546(B72),B*1558(B62) and B*1568(B35). A total of 21 different HLA-B*15 alleles were identified. B*1501(4.69%) was the most frequent allele, followed by B*1511(2.55%),B*1502(2.10%),B*1518(1.34%),B*1527(1.27%). Conclusion:Our study demonstrates the high diversity of HLA-B*15 in the Jiangsu population, which shows direct significance for the selection of transplantation donor, the diagnosis and treatment the HLA related diseases.

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樊 苏,潘芹芹,王晓艳,潘 猛,赵 星,汪承亚,沈 捷.江苏地区骨髓库志愿者HLA-B*15组基因多态性研究及临床意义[J].南京医科大学学报(自然科学版),2011,(6):813-817

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  • 收稿日期:2010-12-21
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