| Autor: |
Shiyue, Ma, Kunling, Song, Jinhong, Niu |
| Rok vydání: |
2018 |
| Předmět: |
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| Zdroj: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 35(5) |
| ISSN: |
1003-9406 |
| Popis: |
To detect disease-causing mutations in a patient with hereditary elliptocytosis.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.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.5077AC (p.Lys1693Gln) missense mutation in exon 36, c.5572CG (p.Leu1858Val) missense mutation in exon 40, and a IVS45nt-12CT in intron 45. The father and grandmother of the patient were both heterozygous for c.5077AC mutation, while her mother was heterozygous for c.5572CG and IVS45nt-12CT mutations.The hereditary elliptocytosis in the patient may be attributed to the synergistic action of c.5077AC, c.5572CG and IVS45nt-12CT mutations of the SPTA1 gene. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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