[Hereditary spherocytosis due to a novel c.5798+1G>A variant of the SPTB gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(1): 17-20, 2020 Jan 10.
Article
em Zh
| MEDLINE
| ID: mdl-31922588
ABSTRACT
OBJECTIVE:
To explore the genetic basis of a pedigree affected with hereditary spherocytosis.METHODS:
Peripheral blood samples were collected from 17 members of the pedigree. Genomic DNA of the proband was subjected to next generation sequencing. Candidate variant was validated by co-segregation analysis. pCAS2(c.5798+1G) and pCAS2(c.5798+1A) plasmids were constructed by homologous recombination and transfected into 293T cells. Reverse transcription PCR, TA cloning and Sanger sequencing were used to analyze the effect of candidate variant on splicing. Meanwhile, peripheral blood RNAs were extracted to analyze the effect of candidate variant on splicing in vivo.RESULTS:
The proband was found to carry a c.5798+1G>A variant of the SPTB gene. The variant has co-segregated with the phenotype in the pedigree. In vitro and in vivo splicing experiments confirmed that the mutation has significantly affected the splicing, resulting in shift of reading frame and produced a premature termination codon.CONCLUSION:
The novel c.5798+1G>A variant of the SPTB gene probably underlies the pathogenesis of hereditary spherocytosis in this pedigree.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Esferocitose Hereditária
/
Espectrina
Limite:
Humans
Idioma:
Zh
Ano de publicação:
2020
Tipo de documento:
Article