Application of High Resolution Melting Curve Analysis in Detection of SLC4A1 Gene Mutation in Patients with Hereditary Spherocytosis.
10.7534/j.issn.1009-2137.2018.06.041
- Author:
Shi-Yue MA
1
;
Lin LIAO
1
;
Ben-Jin HE
2
;
Fa-Quan LIN
3
Author Information
1. Department of Laboratorial Medicine, The First Affiliated Hospital of Guangxi Medical University Nanning 530021, Guangxi Zhuang Autonomous Region, China.
2. Department of Laboratorial Medicine of Jiangbin Hospital, Nanning 530021, Guangxi Zhuang Autonomous Region, China.
3. Department of Laboratorial Medicine, The First Affiliated Hospital of Guangxi Medical University Nanning 530021, Guangxi Zhuang Autonomous Region, China,E-mail: fqlin1998@163.com.
- Publication Type:Journal Article
- MeSH:
Anion Exchange Protein 1, Erythrocyte;
genetics;
Base Sequence;
DNA Mutational Analysis;
DNA Primers;
Heterozygote;
Humans;
Mutation;
Spherocytosis, Hereditary;
genetics
- From:
Journal of Experimental Hematology
2018;26(6):1826-1830
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the feasibility and clinical significance of high resolution melting(HRM) curve analysis to detect SLC4A1 gene D38A and K56E mutations in the patients with hereditary spherocytosis(HS).
METHODS:Peripheral blood was collected from 23 cases of HS for routine tests and their genomic DNA was extracted by routine technique. Specific primers of mutation sites D38A and K56E of SLC4A1 gene were designed. The HRM method was used to analyze all the samples, and then the results of HRM were verified with DNA sequencing technology.
RESULTS:Among 23 specimens of HS patients, 6 cases of heterozygous mutant gene were detected by HRM technology, including 3 cases of D38A mutation and 3 cases of K56E mutation, which were confirmed by DNA sequencing.
CONCLUSION:The HRM technology can correctly detect 2 common mutation sites including D38A and K56E in SLC4A1 gene in an efficient, fast, and reliable way, which not only can be used for clinical diagnosis, but also expected to be a new method for clinical researchers to define gene mutation spectrum in HS patients.
