Analysis of HBB-3'HS1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2243-LGZ)

Introduction

Gene description: beta-globin 3' hypersensitive site 1<br />Gene type: biological region<br />Also known as: HSVI; 3'HS1<br />This element represents a DNase I hypersensitivity site found approximately 20 kb downstream of the erythrocyte β-globin gene cluster. It has been shown to function as a scaffold attachment region, and it also has enhancer-blocking activity mediated by binding CTCF transcription factors. Chromosome conformation capture assays indicate that it is an integral part of the beta-globin active chromatin hub in erythroid cells, where it undergoes looping interactions with the beta-globin locus control region (LCR) and active beta-globin gene promoters. Mutations in this hypersensitive site may be associated with beta-thalassemia. This hypersensitive locus is located in a region that is deleted in certain beta-thalassemias, including several hereditary fetal hemoglobin (HPFH) deletions.