Study on the correlation between the polymorphism of rs4527238 in ANTXR1 gene and the expression of HbF in β-thalassemia minor
XU Qin
LIU Xing-mei
YANG Nan-nan
LI Di
XIONG Yong-hong
WANG Shi-min
AN Bang-quan
HUANG Sheng-wen
Abstract：Objective To investigate the correlation between the single nucleotide polymorphism of rs 4527238 (C＞T) in anthrax toxin 1 receptor (ANTXR1) gene and the expression of fetal hemoglobin (HbF) in β-thalassemia mi-nor.Methods The concentration of HbF was detected by capillary electrophoresis , following the blood samples collec-tion 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 rs 4527238 genotypes in β-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 sta-tistical significance (P＝0.047).Conclusion There is a certain correlation between the polymorphism of rs 4527238 (C＞T) in ANTXR1 gene and the expression of HbF in β-thalassemia minor.
Keywords：ANTXR1rs4527238SNPβ-thalassemia minorHbF
Publication Date：2018-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 1159-1162 )