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Your search keyword '"Attila Braun"' showing total 4 results
Start Over Author "Attila Braun" Journal human genetics
4 results on '"Attila Braun"'

1. Population study of the G1691A mutation (R506Q, FV Leiden) in the human factor V gene that is associated with resistance to activated protein C

Author

A. A. Rosche, Attila Braun, and B. Müller

Subjects
Molecular Sequence Data, Loss of heterozygosity, Gene Frequency, Germany, Genetics, medicine, Humans, Point Mutation, Genetic Testing, Allele, Allele frequency, Genetics (clinical), biology, Base Sequence, Point mutation, Genetic Carrier Screening, Factor V, Thrombophlebitis, Mutation (genetic algorithm), biology.protein, Population study, Protein C, medicine.drug
Abstract

The mutation G1691A (R506Q) in the human factor V gene is associated with the resistance to activated protein C (APC) that represents a major risk of development of venous thrombosis. A population study of 180 unrelated individuals from south Germany was performed. Examination of the allelic frequencies revealed a high prevalence of this disease-related mutation (Q506, FV Leiden). The heterozygosity rate was 7.8% with a confidence interval between 4% and 11%.

Published
1996

2. Characterization of mutants of the vitamin D-binding protein/group-specific component: molecular evolution of GC*1A2 and GC*1A3, common in some Asian populations

Author

Stefan Kammerer, Hartwig Cleve, Attila Braun, Regina Bichlmaier, Andrea Kofler, I. Yuasa, and Kazuo Umetsu

Subjects
Male, Vitamin D-binding protein, Molecular Sequence Data, Mutant, Biology, Polymerase Chain Reaction, Serine, Exon, Japan, Molecular evolution, Genetics, Humans, Molecular Biology, Gene, Alleles, Polymorphism, Single-Stranded Conformational, Genetics (clinical), DNA Primers, Base Sequence, Isoelectric focusing, Vitamin D-Binding Protein, DNA, Exons, Biological Evolution, Molecular biology, Biochemistry, Mutation, Female, Polymorphism, Restriction Fragment Length, Cysteine
Abstract

A well defined polymorphism of vitamin D-binding/ group-specific component (GC) resides in exon 11. To characterize the molecular basis of GC*1A2 and GC*1A3, common in some Asian populations, we analyzed all coding exons amplified by the polymerase chain reaction. GC*1F was divided into GC*1Fc and GC*1FT by a C-T transition in the third nucleotide of the codon (TGC/T) for cysteine283 in exon 8. The sequencing of exons 8 and 11 showed that GC*1A2 and GC*1A3 had occurred on a GC*1Fc genetic background. They also shared a substitution of cysteine (TGC) for arginine (CGC) at position 429 in exon 11. GC*1A2 was characterized by having glycine (GGC) instead of serine (AGC) at position 335 in exon 9. GC*1A2 evolved from GC*1FT by three mutational events, i.e. GC*1FT→GC*1Fc→GC*1A3→ GC*1A2. No evidence was obtained for the existence of the duplicated gene GC*1F · 1A2 suggested by isoelectric focusing (IEF) of serum samples. The idea that the characteristic banding pattern of GC*1F · 1A2 after IEF results from partial formation of a disulfide bond in the additional cysteine at position 429 is discussed.

Published
1995

3. Population study of a sequence polymorphism in intron 2 of the human ?-globin gene

Author

Adelbert A. Roscher, Regina Bichlmaier, Attila Braun, Ambach H, and Stefan Kammerer

Subjects
Molecular Sequence Data, Single-nucleotide polymorphism, Biology, Gene Frequency, Polymorphism (computer science), Germany, parasitic diseases, Genetics, Humans, Cameroon, Globin, Allele, Allele frequency, Gene, Alleles, Polymorphism, Single-Stranded Conformational, Genetics (clinical), DNA Primers, Polymorphism, Genetic, Base Sequence, Intron, Molecular biology, Introns, Globins, Genetic marker
Abstract

The distribution of a nucleotide polymorphism in intron 2 of the beta-globin gene (IVS-2 nt 666 CT was examined in populations in southern Germany and Cameroon. The allelic frequencies were 0.86 for T and 0.14 for C in southern Germany and 0.87 for T and 0.13 for C in Cameroon, respectively.

Published
1995

4. A novel sequence polymorphism in the promoter region of the human B2-bradykinin receptor gene

Author

Attila Braun, Stefan Kammerer, Adelbert A. Roscher, B. Muller, and Esther M. Maier

Subjects
Genetic Markers, Receptor, Bradykinin B2, Molecular Sequence Data, Population, Single-nucleotide polymorphism, Biology, Polymerase Chain Reaction, Gene Frequency, Germany, Genetics, Humans, Allele, Promoter Regions, Genetic, education, Gene, Allele frequency, Alleles, Genetics (clinical), DNA Primers, education.field_of_study, Polymorphism, Genetic, Base Sequence, Receptors, Bradykinin, Promoter, DNA, Molecular biology, Genetic marker, Electrophoresis, Polyacrylamide Gel, B2 Bradykinin Receptor
Abstract

The distribution of a nucleotide polymorphism in the core promoter of the human B2-bradykinin receptor gene was examined in the population of southern Germany. The allelic frequencies were 0.595 for the C allele and 0.405 for the T allele. The allelic frequencies were in Hardy-Weinberg equilibrium. This new marker provides a valuable tool to assess the risk for putative bradykinin-associated disorders with genetic determinism.

Published
1996

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