Your browser doesn't support javascript.
loading
Application of High Resolution Melting Curve Analysis in Detection of SLC4A1 Gene Mutation in Patients with Hereditary Spherocytosis / 中国实验血液学杂志
Journal of Experimental Hematology ; (6): 1826-1830, 2018.
Article in Zh | WPRIM | ID: wpr-774378
Responsible library: WPRO
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.
Subject(s)
Full text: 1 Index: WPRIM Main subject: Spherocytosis, Hereditary / Anion Exchange Protein 1, Erythrocyte / DNA Mutational Analysis / Base Sequence / DNA Primers / Genetics / Heterozygote / Mutation Type of study: Diagnostic_studies Limits: Humans Language: Zh Journal: Journal of Experimental Hematology Year: 2018 Type: Article
Full text: 1 Index: WPRIM Main subject: Spherocytosis, Hereditary / Anion Exchange Protein 1, Erythrocyte / DNA Mutational Analysis / Base Sequence / DNA Primers / Genetics / Heterozygote / Mutation Type of study: Diagnostic_studies Limits: Humans Language: Zh Journal: Journal of Experimental Hematology Year: 2018 Type: Article