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 address ...

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.

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.

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.

In this study, a multiplex PCR protocol has been designed allowing simultaneous amplification of multiple overlapping DNA fragments encompassing the entire HBB gene sequence in addition to 17 well-characterized closely linked SNP. Amplicons were subsequently analyzed using an NGS method revealing both disease-causing mutations and SNP genotypes.

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 …

Objectives Inherited disorders of haemoglobin are the world’s most common genetic diseases, resulting in significant morbidity and mortality. The large number of mutations associated with the...

Real-time PCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe. Gene-specific PCR primers for the unbiased preamplification of small quantities of cDNA for subsequent use in downstream gene expression analysis.

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.

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 ...