高原红细胞增多症患者低氧诱导因子-1α基因第12外显子多态性分析

Relationship between gene polymorphisms of HIF-1α exon12 and high altitude polycythemia

目的研究低氧诱导因子-1α(HIF-1α)基因第12外显子多态性与高原红细胞增多症(HAPC)的相关性。方法采集53例HAPC患者以及90例健康个体的外周静脉血样,提取白细胞基因组DNA,利用TaqMan-MGB探针荧光定量PCR检测分析HIF-1α基因第12外显子的C1772T和G1790A的单核苷酸多态性。结果与对照组比较,HAPC患者HIF-1α基因的C1772T和G1790A的突变杂合子基因型的发生率增高,差异有统计学意义(P<0.05)。结论 HIF-1α基因第12外显子多态性与高原红细胞增多症的发生有关联。

Objective To analyze the relationship between gene polymorphisms of HIF-1α exon 12 and high altitude polycythemia （HAPC）. Methods Genomic DNA was extracted from peripheral leukocyte of 53 HAPC patient and 90 heahhy individuals. Single nucleotide polymolphisms were examined by the real time PCR genotyping, which was established using Taqman minor groove binding probes. Results Compared with the control, GA genotype frequency of HIF-1α G1790A in HAPC and CT genotype frequency of HIF-1α C1772T in HAPC patients were significantly higher （P〈0.05）. Conclusion Gene polymorphisms of HIF-1α exonl2 may be a risk factor for HAPC.