Analysis of SPTA1 gene mutations in a patient with hereditary elliptocytosis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect disease-causing mutations in a patient with hereditary elliptocytosis.</p><p><b>METHODS</b>Sodium dodecyl sulfate polyacrylamide gel electropheresis (SDS-PAGE) was used to identify the type of erythrocyte membrane protein defect. Potential mutations of the exons and adjacent introns of relevant genes were analyzed by Sanger sequencing.</p><p><b>RESULTS</b>SDS-PAGE has failed to detect any difference between the patient and healthy controls. However, Sanger sequencing has detected three mutations in the SPTA1 gene in the patient, which included c.5077A>C (p.Lys1693Gln) missense mutation in exon 36, c.5572C>G (p.Leu1858Val) missense mutation in exon 40, and a IVS45nt-12C>T in intron 45. The father and grandmother of the patient were both heterozygous for c.5077A>C mutation, while her mother was heterozygous for c.5572C>G and IVS45nt-12C>T mutations.</p><p><b>CONCLUSION</b>The hereditary elliptocytosis in the patient may be attributed to the synergistic action of c.5077A>C, c.5572C>G and IVS45nt-12C>T mutations of the SPTA1 gene.</p>

Rapid screening of c.166A>G in SLC4A1 gene by high-resolution melting analysis / 中华检验医学杂志

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.