Variation in gene copy number and polymorphism of the human salivary amylase isoenzyme system in Caucasians

The polymorphic patterns of human salivary amylase of a large number of individuals of Caucasian origin were determined by using isoelectric focusing and polyacrylamide gel electrophoresis. Nine different salivary amylase protein variants were found; three of them are recorded for the first time and their heredity is shown. Some of the variants are encoded by haplotypes expressing three allozymes. Most variants display low frequencies. Analysis of the relative intensities of variant-specific isozyme bands, combined with segregation analysis, show that extensive quantitative variation is presen... Mehr ...

Verfasser: Bank, R.A.
Hettema, E.H.
Muijs, M.A.
Pals, G.
Arwert, F.
Boomsma, D.I.
Pronk, J.C.
Dokumenttyp: Artikel
Erscheinungsdatum: 1992
Reihe/Periodikum: Bank , R A , Hettema , E H , Muijs , M A , Pals , G , Arwert , F , Boomsma , D I & Pronk , J C 1992 , ' Variation in gene copy number and polymorphism of the human salivary amylase isoenzyme system in Caucasians ' , Human Genetics , vol. 89 , no. 2 , pp. 213-222 . https://doi.org/10.1007/BF00217126
Schlagwörter: /dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_ / name=Netherlands Twin Register (NTR)
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-29213163
Datenquelle: BASE; Originalkatalog
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Link(s) : https://research.vu.nl/en/publications/0ab98bca-9e69-4984-ba33-62ab69d51cca

The polymorphic patterns of human salivary amylase of a large number of individuals of Caucasian origin were determined by using isoelectric focusing and polyacrylamide gel electrophoresis. Nine different salivary amylase protein variants were found; three of them are recorded for the first time and their heredity is shown. Some of the variants are encoded by haplotypes expressing three allozymes. Most variants display low frequencies. Analysis of the relative intensities of variant-specific isozyme bands, combined with segregation analysis, show that extensive quantitative variation is present in the population. The numbers of salivary amylase genes in some families showing quantitative variation at the protein level have been estimated by the polymerase chain reaction. We present evidence that quantitative variations in amylase protein patterns do not always reflect variations in gene copy number but that other mechanisms are also involved. © 1992 Springer-Verlag.