Formal and Population Genetics of F13A and FUCAl Polymorphisms in Northern Portugal

Praia, Maria João; Amorim, António

doi:10.1159/000153902

Cited by 5 publications

(2 citation statements)

References 4 publications

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“…In fact, these fre quencies are the highest recorded not only for the European, but also for the world popula tions so far examined. Frequencies observed in Galicia were somewhat lower than in the rest of the Spanish populations studied, and were similar to those reported for northern Portugal [6]. Moreover, both fall within the midrange between the Iberian populations studied, and those of northern and central Eu rope.…”

Section: Resultssupporting

confidence: 83%

Distribution of F13A Phenotypes in Spain: A Particularly High Frequency of the F13A*2 Allele

Jl¹,

Parra²,

Gremo

et al. 1992

Hum Hered

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Section: Resultssupporting

confidence: 83%

Distribution of F13A Phenotypes in Spain: A Particularly High Frequency of the F13A*2 Allele

Jl¹,

Parra²,

Gremo

et al. 1992

Hum Hered

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“…F13A types and subtypes were determined as presented in Prata and Amorim [10]and Arnold et al [11], respectively.…”

Section: Methodsmentioning

confidence: 99%

Allelic Affinities between the F13A Common Gene Products Inferred by the Analysis of an (AAAG)n STR Polymorphism within the 5′ Untranslated Region

et al. 2000

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Factor XIII a subunit (F13A) is the last enzyme in the blood coagulation cascade. It is characterized by extensive genetic polymorphism defined by 4 common alleles, F13A*1A, 1B, 2A and 2B and a few rare variants, some responsible for severe coagulation deficiencies. In order to infer the evolutionary affinities between the common F13A alleles we have applied PCR techniques to study, in a Northern Portuguese sample, a short tandem repeat polymorphism located within the 5′ untranslated region of the F13A gene. The analysis of the molecular heterogeneity within the F13A gene products revealed that the four biochemical variants shared very similar, truncated, distributions of STR alleles and showed no signs of predominant haplotypic associations. These findings seem to support both the inferences that intragenic recombination played an important role in the generation of molecular diversity within each of the four main F13A alleles and that all the four F13A alleles must be rather old. Molecular heterogeneity levels allowed the identification of 1B as the oldest F13A allelic state, and 2A as the most recently generated allele, but were not different enough to accurately track the divergence of alleles 1A and 2B. However, additional analysis of linkage disequilibrium patterns indicates that 1B→2B→1A→2A is the most likely evolutionary order of appearance of F13A main protein alleles, confirming and extending a previous hypothetical model inferred from their molecular features.

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Genetic polymorphisms of the A and B subunits of human coagulation factor XIII in mainland Italy and Sardinia: Description of a new FXIIIA variant allele

Scacchi¹,

Corbo²,

Mureddu³

et al. 1991

Electrophoresis

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The distribution of the two alleles of FXIIIA and the three alleles of FXIIIB were studied in populations from mainland Italy and from Sardinia. The frequencies of the FXIIIA*2 allele were 0.266 and 0.265. The frequencies of FXIIIB*1 were 0.787 and 0.765; of B*2, 0.070 and 0.094; of B*3, 0.143 and 0.141. A new cathodal FXIIIA allele (A*7) was described in the Rome sample. No significant difference in the distribution of allele frequencies for either system was found between the two populations studied. For typing both markers, good results were also obtained by using whole blood instead of plasma.

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Formal and Population Genetics of F13A and FUCAl Polymorphisms in Northern Portugal

Cited by 5 publications

References 4 publications

Distribution of F13A Phenotypes in Spain: A Particularly High Frequency of the F13A*2 Allele

Distribution of F13A Phenotypes in Spain: A Particularly High Frequency of the F13A*2 Allele

Allelic Affinities between the F13A Common Gene Products Inferred by the Analysis of an (AAAG)n STR Polymorphism within the 5′ Untranslated Region

Genetic polymorphisms of the A and B subunits of human coagulation factor XIII in mainland Italy and Sardinia: Description of a new FXIIIA variant allele

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