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.(Chin J Lab Med, 2018, 41: 370-373) Key words: Spherocytosis, hereditary; Anion exchange protein 1, erythrocyte; High resolution melting
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