A family with a novel variant of pancreatic-type amylase.
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概要
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Three types of the hereditary variant human amylase (AMY) of pancreatic (P) origin are known, dominant P2, dominant P2S, and slow P. A 67-year-old woman visited our clinic with chief complaints of epigastralgia and back pain, and she had hyperamylasemia during laboratory tests. Then, we found an extra band which migrated between P1 and dominant P2S by AMY isoenzyme analysis with cellulose acetate membrane electrophoresis of the patient's serum. The extra band did not react with the anti-human salivary-type AMY inhibitory monoclonal antibody, suggesting that the extra band seemed to be derived from P-type AMY, a novel P-type AMY variant. When the pedigree of this patient was investigated, the same P-type AMY variant could be detected in 7 of 14 family members, and we also found to be the novel band in both males and females of this family. Therefore, the type of inheritance of the AMY variant was considered to be autosomal dominant. The appearance rate of this novel P-type AMY variant should be investigated in future.
- 日本電気泳動学会の論文
日本電気泳動学会 | 論文
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