Comparison of Acid Phosphatase ACP1 Variants by Isoelectric Focusing and Conventional Electrophoresis: Identification of Three New Alleles, ACP1*N, ACP1*P and ACP1*S

Abstract

Three new alleles of human red cell acid phosphatase (ACP1) have been identified by comparison with previously reported variants using three different electrophoretic techniques. Family data are available on all the variants and show genetic transmission of the rare alleles ACP1*N, ACP1*P and ACP1*S. Further evidence of a rare allele demonstrating reversed ‘A’ activity is also described. The report documents the need to use several electrophoretic techniques to characterize new or rare variants.

Human Red-Cell Acid Phosphatase (ACP1): A New Mutant (ACP1*KUK) Detected by Isoelectric Focusing, Kinetics of Thermostability and Substrate Activity

“…As it was shown in previous studies [2][3][4][5][6][7][8][9], the technique of IEF yields better electrophoretic separations than the con ventional starch gel electrophoresis. Each allele produces at least four isozymes dif fering in their isoelectric points.…”

“…According to the pattern published by Miller et al [3], the ACPI H and ACPI KUK proteins may have similar IEF mo bilities, but they differ in their migrations after conventional starch gel electrophore sis (pH 5.9). The reverse 'A' variant also called the A' variant by Miller et al [3] does not appear to be identical with the ACPI * KUK variant because of their dif ferences in the two electrophoretic sys tems.…”

“…The reverse 'A' variant also called the A' variant by Miller et al [3] does not appear to be identical with the ACPI * KUK variant because of their dif ferences in the two electrophoretic sys tems.…”

“…Recently, isoelectric focusing (IEF) has been used successfully to perform this typing [3,9] and has resulted in the de scription of new isozymes. The aim of our study is to present the delineation of a new rare mutant segregating in a large family.…”

Genetic Structure of Mongolic-Speaking Kalmyks

“…GC was typed by isoelectric focusing (IEF) using the method described by Spitsyn and Titenko (1990). In addition, the following erythrocytic enzymes were typed by IEF: acid phosphatase 1 (ACP1) on an agarose gel using the method of Miller et al (1987); esterase D (ESD) on polyacrylamide gel after the method of Divall (1994). Both phosphoglucomutase-1 (PGM1) and superoxyddismutase-A (SOD-A) were phenotyped using IEF on the same polyacrylamide gels, following the method of Goedde et al (1981).…”