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Evidence for Close Linkage of Human Amylase Loci
Authors:A. DONALD MERRITT  MARIAN L. RIVAS  JEWELL C. WARD
Affiliation:1.Department of Medical Genetics,Indiana University Medical Center,Indianapolis
Abstract:HUMAN α-amylase (α-1,4-glucan 4-glucanohydrolase, E.C. 3.2.1.1) is primarily in the pancreas and salivary glands and can be detected in serum and urine (UAmy) as well as in saliva (SaAmy) and duodenal secretions. The SaAmy locus (Amy1) has at least three mutant alleles with the combined frequency of electrophoretic variant phenotypes totalling approximately 0.01 in Caucasian Americans1. Subsequently, UAmy was shown to be a convenient source of pancreatic amylase. The pancreatic amylase locus (Amy2) has at least two mutant alleles in Caucasian and Afro-Americans2. The variant UAmy Ss is common in Caucasians whereas UAmy Sp has been found only in Afro-Americans; the frequency of variant phenotypes is 0·086 in each population2.
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