2010年1月5日 · The polymerase chain reaction (PCR) primers are located to encompass virtually all hemoglobin β locus (HBB) mutations. In addition, this assay is able to detect, by gap PCR, a common large deletion (Δ619 base pair), which would be missed by sequencing alone.

2016年10月19日 · We have recently developed a Gene Ratio Copy Enumeration PCR (GRACE-PCR) to determine copy numbers for the α-globin genes and we describe a similar approach for the detection of deletions of the HBB gene. We also developed a HRM-PCR method that was optimized with the use of an unlabelled probe and primers containing universal bases to …

2023年5月21日 · Well-characterized deletions of the HBB locus, which result in δβ-thalassemia or hereditary persistence of fetal hemoglobin (HPFH), can be detected by gap-PCR as for α-thalassemia. 42 MLPA can be used if the deletion breakpoints are not known. 20, 43 We and others have demonstrated the ability of array-CGH to characterize deletions of the ...

2009年11月1日 · The authors utilized real-time gap-PCR with SYBR Green1 and HRM analysis for diagnosis of β-thalassemia 3.5 kb deletion. So far, there is no thorough study on the capability of HRM to identify HBB (hemoglobin, beta) gene point mutations. In this study, we report a method for rapid detection of HBB gene mutations.

2020年4月15日 · The primers HBB-1kb-F (5′-TCTGGAGACGCAGGAAGAGA-3′) and HBB-1kb-R (5′-ACGATCCTGAGACTTCCACAC-3′) were used for PCR amplification endonuclease targeted genomic DNA sequence of HBB gene. Primers were designed to produce 1 kb long products centering the expected target site.

Five TaqMan genotyping assays targeting IVS1-1 (HBB:c.92+1G>T), IVS1-5 (HBB:c.92+5G>C), CD41/42 (HBB:c.127_130delCTTT), Poly A (HBB:c.*+112A>G) and CD26 (HBB:c.79G>A) mutations were developed to detect the common β-thalassemia mutations in the …

2016年10月19日 · The large number of mutations associated with the haemoglobin beta gene (HBB) makes gene scanning by High Resolution Melting (HRM) PCR an attractive diagnostic approach. However, existing HRM-PCR assays are not able to detect all common point mutations and have only a very limited ability to detect larger gene rearrangements.

The polymerase chain reaction (PCR) primers are located to encompass virtually all hemoglobin beta locus (HBB) mutations. In addition, this assay is able to detect, by gap PCR, a common large deletion (Delta619 base pair), which would be missed by sequencing alone.

2025年3月17日 · The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia.

2016年11月7日 · Here we present a CRISPR/Cas9 gene-editing system that combines Cas9 ribonucleoproteins and adeno-associated viral vector delivery of a homologous donor to achieve homologous recombination at the...