Establishment and application of a novel method based on single nucleotide polymorphism analysis for detecting β-globin gene cluster deletions.

ABSTRACT: β-Globin gene mutations reduce or terminate the production of beta globin chains, of which approximately 10% are large deletions within the β-globin gene cluster. Because gene deletion leads to loss of heterozygosity at single nucleotide polymorphism (SNP), a novel method for detecting β-globin gene cluster deletions based on SNP heterozygosity analysis was established in this study. The location range of SNPs was selected according to the breakpoint of β-globin gene cluster deletions. SNPs were screened using bioinformatics analysis and population sequencing data. A novel method which enables genotyping of multiplex SNPs based on tetra-primer ARMS-PCR was designed and optimized. Forty clinical samples were tested in parallel by this method and MLPA to verify the performance of this method

SUBMITTER: Hu S 

PROVIDER: S-EPMC7588424 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature