Detection of four rare thalassemia variants using Single-molecule realtime sequencing.

ABSTRACT: Conventional methods for the diagnosis of thalassemia include gap polymerase chain reaction (Gap-PCR), reverse membrane hybridization (RDB), multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing. In this study, we used single molecule real-time technology (SMRT) sequencing and discovered four rare variants that have not been identified by conventional diagnostic methods for thalassemia. We also performed genotype and phenotype analyses on family members of thalassemia patients. The SMRT technology detected five cases in which the proband had abnormal results by conventional diagnostic methods or inconsistencies between the genotype and phenotype. The variants included two cases of an α-globin gene cluster 27,311 bp deletion, --^27.3/αα (hg38 chr16:158664-1

SUBMITTER: Luo S 

PROVIDER: S-EPMC9493964 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature