Genetic Analysis of a Chinese Pedigree with Hereditary Spherocytosis Caused by Copy Number Variation Deletion of SPTB Gene.
10.19746/j.cnki.issn.1009-2137.2023.01.029
- Author:
Xiang-Lei CHEN
1
;
Jing-Gang LI
2
;
Qian MEN
3
;
Xin LI
4
Author Information
1. Department of Hematology, Yidu Central Hospital of Weifang, Weifang 262500, Shandong Province, China.E-mail: chenxianglei2009@163.com.
2. Fujian Institute of Hematology, Fujian Provincial Key Laboratory of Hematology, Fujian Medical University Union Hospital, Fuzhou 350001, Fujian Province, China.
3. Department of Hematology, Yidu Central Hospital of Weifang, Weifang 262500, Shandong Province, China.
4. Fujian Institute of Hematology, Fujian Provincial Key Laboratory of Hematology, Fujian Medical University Union Hospital, Fuzhou 350001, Fujian Province, China.Department of Blood Transfusion Medicine, School of Medical Technology and Engineering, Fujian Medical University, Fuzhou 350001, Fujian Province, China.E-mail: fjlixin@126.com.
- Publication Type:Journal Article
- Keywords:
copy number variation;
hereditary spherocytosis;
second-generation sequencing
- MeSH:
Humans;
DNA Copy Number Variations;
East Asian People;
Mutation;
Pedigree;
Spectrin/genetics*;
Spherocytosis, Hereditary/diagnosis*
- From:
Journal of Experimental Hematology
2023;31(1):183-188
- CountryChina
- Language:Chinese
-
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.
