Literature DB >> 468278

New genetic variants of parotid salivary amylase.

J C Pronk, R R Frants.   

Abstract

Isoelectric focusing can reveal at least two heterozygotes of the Amy1R class of variants. Family data on these variants show co-dominant inheritance for both alleles with respect to the normal Amy1A allele. The frequency of the alleles Amy1R1 and Amy1R2 in the Dutch population (n = 144) amounts to 0.006 and 0.03, respectively. Electrophoretic analysis of whole parotid saliva from different Amy1R phenotypes and of purified normal and Amy1R1 gene products indicates that the variant proteins differ from the normal protein by enhanced deamidation of asparagine and/or glutamine residues.

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Year:  1979        PMID: 468278     DOI: 10.1159/000153038

Source DB:  PubMed          Journal:  Hum Hered        ISSN: 0001-5652            Impact factor:   0.444


  4 in total

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

Authors:  R A Bank; E H Hettema; M A Muijs; G Pals; F Arwert; D I Boomsma; J C Pronk
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

2.  Genetic analysis of human salivary alpha-amylase isozymes by isoelectric focusing.

Authors:  P D Eckersall; J A Beeley
Journal:  Biochem Genet       Date:  1981-12       Impact factor: 1.890

3.  Evidence of duplication of the human salivary amylase gene.

Authors:  J C Pronk; R R Frants; W Jansen; A W Eriksson; G J Tonino
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  Obesity, starch digestion and amylase: association between copy number variants at human salivary (AMY1) and pancreatic (AMY2) amylase genes.

Authors:  Danielle Carpenter; Sugandha Dhar; Laura M Mitchell; Beiyuan Fu; Jess Tyson; Nzar A A Shwan; Fengtang Yang; Mark G Thomas; John A L Armour
Journal:  Hum Mol Genet       Date:  2015-03-18       Impact factor: 6.150

  4 in total

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