Genetic variants showing apparent hot-spots in the human serum albumin gene
| ISSN: | 0009-8981 |
|---|---|
| DOI: | 10.1016/s0009-8981(99)00166-7 |
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb5c32840ab125330585020c3b1b6d94 https://doi.org/10.1016/s0009-8981(99)00166-7 |
| Rights: | CLOSED |
| Přírůstkové číslo: | edsair.doi.dedup.....fb5c32840ab125330585020c3b1b6d94 |
| Autor: | John C Chapman, Lorenzo Minchiotti, András L Tárnoky, Ulrich Kragh-Hansen, Monica Galliano, Monica Campagnoli |
| Rok vydání: | 1999 |
| Předmět: |
Heterozygote
Clinical Biochemistry Serum albumin Serum Albumin Human Biochemistry Genetic variation medicine Humans Amino Acid Sequence Peptide sequence Gene Serum Albumin biology Biochemistry (medical) Albumin Genetic Variation Heterozygote advantage General Medicine Human serum albumin medicine.disease Amino Acid Substitution Mutation biology.protein Bisalbuminemia medicine.drug |
| Zdroj: | Clinica Chimica Acta. 289:45-55 |
| ISSN: | 0009-8981 |
| DOI: | 10.1016/s0009-8981(99)00166-7 |
| Popis: | The molecular defects of three different slow-migrating genetic variants of human serum albumin, albumins Kamloops (formerly RIH), Stirling and Amsterdam, previously characterized only by electrophoretic and dye-binding studies, are now reported. Two of them are proalbumin variants: sequential analysis of the purified whole proteins has established the mutation responsible for albumin Kamloops as -1Arg-->Gln, and for albumin Stirling as -2Arg-->His. A Glu-->Lys substitution in position 570 of the mature albumin molecule was determined in albumin Amsterdam by sequential analysis of two abnormal tryptic fragments. The three alloalbumins are caused by single-base changes all of which seem to represent hot-spots in the albumin gene. The possible functional consequences of the presence of a circulating alloalbumin are discussed. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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