Analysis of SPTA1 gene mutations in a patient with hereditary elliptocytosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 703-706, 2018.
Article
in Chinese
| WPRIM
| ID: wpr-688163
ABSTRACT
<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>
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2018
Type:
Article
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