Handbook of enzyme electrophoresis in human genetics

In this study, the evolutionary relationships within and among populations of European shads, Alosa alosa and Alosa fallax, was investigated. Screening of allelic variation across eight allozyme loci and sequencing 448 bp of the mtDNA cytochrome b gene in 14 rivers throughout the range of the species supported that the two taxa were independent lineages (1·3% net nucleotide divergence) despite extensive hybridization. Genetic diversity and structure was considerably higher in A. fallax than A. alosa and the former species revealed evidence of distinct lineages in the Mediterranean and Atlantic basins. A Bayesian clustering approach combined with gill raker counts verified that individuals of the two species could be assigned to their parent group with relatively high confidence. Evaluation of hybridization in the Lima and Mondego Rivers in Portugal provided evidence that introgression is extensive but is not currently obscuring (through hybrid swarming) the diagnosability of the two species.

Interspecific differentiation and intraspecific substructure in two closely related clupeids with extensive hybridization, Alosa alosa and Alosa fallax

Different analyses of genetic polymorphisms performed on the Basque population have suggested a possible heterogeneity of the Basques and a singularity of their genetic characteristics In this paper, both aspects are analyzed by means of the genetic study of seven polymorphic systems--ACP, ADA, AK, ESD, PGD, GC, and HP--in 854 autochthonous individuals from the province of Vizcaya The individuals were classified as being from the regions of Arratia, Guernica, Durango, Uribe, Marquina, Lea, and Bilbao, on the basis of the birthplaces of their four grandparents Analyses for heterogeneity of the gene frequencies distribution suggest that there is a moderate genetic heterogeneity, probably produced by centuries of geographical and administrative isolation of these regions The comparison with caucasoid populations, performed using the principal components analysis and Cavalli-Sforza and Edwards arc distance, indicates that the subpopulations of the province of Vizcaya have experienced little genetic exchange with other caucasoids and that the distribution of their genetic frequencies differentiates them from other populations

Are the Basques a single and a unique population

Human salivary alpha-amylase displays multiple bands upon native polyacrylamide gel electrophoresis. In fresh saliva, due to posttranslational modifications, a pattern of 5-6 isozymes is observed. The isozymes are designated 1-6, in the order of increasing anodal mobility. As a result of the development of a rapid and sensitive electrophoresis system, with markedly higher resolution than previously reported, we concluded that a previously proposed model (Karn et al., Biochem. Genet. 1973, 10, 341-350) is inadequate to explain the origin of the various bands. We propose an alternative model that fits in with our new and previously made observations. According to this model, band 2 is the primary gene product and band 1 is its glycosylated counterpart--with only one neutral oligosaccharide present on each molecule. Band 3 originates from band 1 by the transialidase-catalyzed incorporation of sialic acid into the biantennary chain. Bands 4 and 6 originate from bands 2 and 4, respectively, by deamidation; band 5 is the deamidation product of amylase with an acidic oligosaccharide (band 3). Only a minor part of band 3 consists of the deamidation product of band 1. Peptide Asn-Gly-Ser (residues 427-429) is the most probable candidate for glycosylation; literature data suggests that deamidation occurs in the stretch Glu-Asn-Gly-Lys-Asp (residues 364-368) and Asn-Gly-Asn-Cys (residues 474-477). Both glycosylation and deamidation might play a role in the clearance of amylase from the systemic circulation. The electrophoresis system described is a powerful tool to determine amylase isozyme distributions in health and disease, especially for the screening of alterations seen in ectopically produced amylase.

Electrophoretic characterization of posttranslational modifications of human parotid salivary alpha-amylase.

The taxonomy of Iberian and North African wall lizards (Podarcis sp.) has been controversial. Recently, morphological and mtDNA sequence data have provided new information on differentiation within these lacertids. To compare these results to those provided by nuclear markers, we investigated variation at 11 polymorphic protein loci using conventional electrophoresis and isoelectric focusing in 11 populations belonging to seven different mtDNA lineages. A total of 62 alleles were found. Populations belonging to the same mtDNA type presented high genetic similarity, whereas strong differentiation was observed between groups. These results are consistent with those previously obtained from morphological and mtDNA analysis and support the idea that Iberian and North African Podarcis are composed of several well-differentiated entities, some of which are already recognized as species, whereas others (belonging to the P. hispanica complex) clearly need taxonomic revision.

http://webpages.icav.up.pt/PTDC/BIA-BEC/102179/2008/pinho2003biochemgen.pdf

Genetic polymorphism of 11 allozyme loci in populations of wall lizards (Podarcis sp.) from the Iberian Peninsula and North Africa.

Glutamate pyruvate transaminase (GPT), esterase D (ESD), glyoxalase I (GLO) and phosphoglucomutase 1 (PGM1) were studied on red cells from unrelated individuals from Porto district (Portugal). The all

Glutamate pyruvate transaminase, esterase D, glyoxalase 1, and phosphoglucomutase 1 polymorphisms in Porto District (Portugal).

The genetically determined polymorphism of human pancreatic amylase (E.C. 3.2.1.1), AMY2, is demonstrated in serum specimens by agarose gel electrophoresis. We, investigated 325 mother-child pairs and 2594 unrelated individuals from southwestern Germany. This study confirms the formal hypothesis of two common alleles AMY

 2
 1
 , AMY

 2
 2
 and possibly two rare alleles AMY

 2
 3
 , AMY

 2
 4
 at an autosomal locus AMY
2. The frequency of the AMY

 2
 1
 allele, was calculated as 0.951; AMY

 2
 3
 and AMY

 2
 4
 seem to have a frequency of 0.001 in this sample.

Human pancreatic amylase polymorphism: formal genetics and population genetics.

Mitochondrial malic enzyme MEM (E.C. 1.1.1.40) is present in human leukocytes; the polymorphism of MEM thus can be easily demonstrated using routine starch gel electrophoresis. Data on formal genetics are given. The gene frequency of ME1Mwas estimated to be 0.67±0.02.

Mitochondrial malic enzyme (E.C. 1.1.1.40) in human leukocytes: Formal genetics and population genetics

PGP (phosphoglycolate phosphatase, E.C. 3.1.3.18) phenotypes were determined by starch gel electrophoresis in 272 mother-child pairs from S. W. Germany. The results confirm and formal hypothesis of three alleles, PGP1, PGP2 and PGP3 at an autosomal locus PGP.

Formal genetics of phosphoglycolate phosphatase (PGP): Investigation on 272 mother-child pairs

An easy method for routine detection of PGM1, PGM2, and PGM3 isozymes is given. Differences in substrate affinity are discussed. Gene products pgm1 can be differentiated from gene products pgm3 by cofactor requirement.

Substrate affinity in PGM1, PGM2, and PGM2 isozymes.

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