神经纤维瘤病Ⅰ型患者HLA-DRB1位点等位基因的测序分型

High Resolution DNA Typing for HLA-DRB1 Genes in Neurofibromatosis Type 1 (NF1) Paitents by Polymerase Chain Reaction-sequence Based Typing( PCR-SBT)

目的 进行神经纤维瘤病Ⅰ型患者的HLA DRB1位点等位基因高分辨率测序分型 ,探讨HLA与神经纤维瘤病发病之间的关系。方法 应用聚合酶链反应 直接测序方法 (PCR SBT) ,对 3 0例神经纤维瘤病Ⅰ型患者及 10 8例正常人进行HLA DRB1位点等位基因分型。结果 神经纤维瘤病Ⅰ型患者HLA DRB1 0 40 6位点等位基因以较高频率出现 ,与对照组比较差异有显著性。结论 HLA DRB1位点等位基因频率在神经纤维瘤病Ⅰ型患者和正常人之间分布不同。

Objective To discuss the relationship between HLA and NF1 by high resolution typing for HLA-DRB1 genes in NF1 patients.Methods Polymerase chain reaction-sequence based typing( PCR-SBT) method was used to type HLA-DRB1 genes of 30 patients of NF1 and 108 control cases. Results The frequency of HLA-DRB1*0406 was higher in NF1 patients than in control groups. Conclusion The frequency of HLA-DRB1 alleles differs significantly between NF 1 patients and control individuals.