ANTXR1基因rs4527238位点多态性与轻型β-地中海贫血HbF表达量的相关性

Study on the correlation between the polymorphism of rs4527238 in ANTXR1 gene and the expression of Hb F in β-thalassemia minor

目的探讨炭疽毒素受体1(ANTXR1)基因单核苷酸多态性(SNPs)位点rs4527238(C>T)与轻型β-地中海贫血(地贫)中胎儿血红蛋白(HbF)表达量之间的关系。方法收集轻型β-地中海贫血样本,通过毛细血管电泳检测患者的Hb F含量;提取全血基因组DNA,采用焦磷酸测序技术对rs4527238位点进行基因型分型检测;分析轻型β-地贫中rs4527238位点不同基因型与HbF表达量的相关性。结果 253例轻型β-地贫中,基因型CC、CT和TT分别有32例(12.6%)、150例(59.3%)和71例(28.1%),C和T等位基因的频率分别为42.3%和57.7%。rs4527238位点CC、CT和TT基因型中HbF≥1%的比例分别为46.9%、69.3%和62.0%,差异有统计学意义(P=0.047)。结论轻型β-地贫中ANTXR1基因rs4527238多态性位点与Hb F的表达量具有一定相关性。

Objective To investigate the correlation between the single nucleotide polymorphism of rs4527238 （C 〉 T） in anthrax toxin 1 receptor （ANTXR1） gene and the expression of fetal hemoglobin （HbF） in β -thalassemia minor. Methods The concentration of HbF was detected by capillary eleetrophoresis, following the blood samples collection from patients with β- thalassemia minor. The genomic DNA of the whole blood was extracted and the genotype of the rs4527238 was determined by using of pyrosequencing technology. Then the correlation between the different rs4527238 genotypes in 13 - thalassemia minor and HbF concentration was analyzed. Results Among the 253 cases with β - thalas- semia minor, 32 were CC genotype （ 12. 6% ） , 150 were CT genotype （59. 3% ） and 71 were TT genotype （28. 1% ）. The frequencies of the allele C and T were 42. 3% and 57.7%, respectively. The proportions of cases with HbF≥1% in CC, CT and TT genotypes of rs4527238 were 46. 9%, 69. 3% and 62. 0%, respectively, and the difference was with statistical significance （ P = 0. 047 ）. Conclusion There is a certain correlation between the polymorphism of rs4527238 （ C 〉 T） in ANTXR1 gene and the expression of HbF in β - thalassemia minor.