Your browser doesn't support javascript.
loading
Genetic Analysis of a Chinese Pedigree with Hereditary Spherocytosis Caused by Copy Number Variation Deletion of SPTB Gene / 中国实验血液学杂志
Article in Zh | WPRIM | ID: wpr-971122
Responsible library: WPRO
ABSTRACT
OBJECTIVE@#To investigate the molecular mechanism of the disease based on the clinical characterization and genetic mutation analysis in a family with hereditary spherocytosis.@*METHODS@#The proband with jaundice and anemia was referred to Yidu Central Hospital of Weifang in May 2021. Peripheral blood samples were collected from six members of the family. Second-generation sequencing was used to screen the pathological mutations, and the clinically significant variant sites were selected. Then the relevant databases were used to analyze the variant sites, and RT-qPCR was used to detect the relative mRNA levels of candidate gene. The structure and function of SPTB protein were analyzed by UniProt and SMART databases.@*RESULTS@#We infer that the SPTB gene copy number variation (CNV) deletion was co-segregated with the phenotype of the patients in this family based on the results of second-generation sequencing (about 700 target genes). The UCSC Genome Browser demonstrated that the deleted region was mainly located in exon2-3 of SPTB gene. The results of RT-qPCR showed that the relative SPTB mRNA levels of all patients were lower than the healthy control. UniProt and SMART databases analysis showed that SPTB protein without CH1 and CH2 domains could not bind to erythrocyte membrane actin.@*CONCLUSION@#The CNV deletion of SPTB gene may be the reason for the hereditary spherocytosis in this family.
Subject(s)
Key words
Full text: 1 Index: WPRIM Main subject: Pedigree / Spherocytosis, Hereditary / Spectrin / DNA Copy Number Variations / East Asian People / Mutation Limits: Humans Language: Zh Journal: Journal of Experimental Hematology Year: 2023 Type: Article
Full text: 1 Index: WPRIM Main subject: Pedigree / Spherocytosis, Hereditary / Spectrin / DNA Copy Number Variations / East Asian People / Mutation Limits: Humans Language: Zh Journal: Journal of Experimental Hematology Year: 2023 Type: Article