Rapid screening of c.166A>G in SLC4A1 gene by high-resolution melting analysis
10.3760/cma.j.issn.1009-9158.2018.05.009
- VernacularTitle:高分辨熔解曲线技术快速筛查SLC4A1基因c.166A>G突变
- Author:
Benjin HE
1
;
Shiyue MA
;
Lin LIAO
;
Faquan LIN
Author Information
1. 广西医科大学第一附属医院检验科
- Keywords:
Spherocytosis,hereditary;
Anion exchange protein 1,erythrocyte;
High resolution melting
- From:
Chinese Journal of Laboratory Medicine
2018;41(5):370-373
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the feasibility of a high-resolution melting(HRM)method for rapid screening of SLC4A1 mutation.Methods Two hereditary spherocytosis(HS)with a c.166A >G heterozygous mutation of SLC4A1 confirmed by DNA sequencing and thirty healthy controls were selected for the study.The HRM primer was designed by Primer Premier 6.0 software.All of these samples were detected by LightCycler?480 and analyzed by HRM.Results The HRM analysis was able to detect the c.166A>G heterozygous mutation of SLC4A1 effectively, and the specificity and sensitivity were both 100%.Conclusions The HRM analysis was appropriate for the detection of c.166A>G in SLC4A1.It was an efficient,accurate and cost-effective molecular diagnosis method.
