A DNA polymorphism in the coding region of coagulation factor IX-potentially valuable for carrier detection. pronetel diagnosis. and population studies-was described in 1 985. It had been discovered with monoclonal antibodies that distinguish between threonine and alanine as the 1 48th residue of the peptide. Its use as a diagnostic tool has been limited because threonine-containing factor IX (...

BACKGROUND Congenital nephrotic syndrome of Finnish type (NPHS1) is an autosomal recessive disorder characterized by severe proteinuria of intrauterine onset. Ninety-four percent of the Finnish NPHS1 chromosomes have been reported to carry either a 2-bp deletion in exon 2 (Fin(Major)) or a nonsense mutation in exon 26 (Fin(Minor)) of the NPHS1 gene. The high prevalence of only two mutations in ...

A factor IX polymorphism 5' to exon 2 was described as 1.70 versus 1.75 kb bands on Southern blots of Ddel digests (1). By primer directed polymerase chain reaction (PCR) amplification, the two alleles are readily apparent on agarose electrophoresis of undigested fragments (430 or 380 bp); in heterozygous women or amplified mixtures of two hemizygous male types, an additional fragment (~480 bp)...

background: equine piroplasmosis is caused by two haemoprotozoan parasites: babesia caballi and theileria equi . negative economic impact on international trade has been associated to endemic sites. this is the reason why carrier detection requires reliable diagnostic methods. various diagnostic modalities can be used alone or in combination including pcr. however, genetic variation of commonly...

The possibilities of nutrigenomics as an approach to determining the effectiveness specialized food products have been studied. For this purpose, influence consumption whey protein concentrate FitPROTEIN and carrier branched-chain amino acids SPORTAMIN®BCAA 6000 on expression target gene FTO was determined. Despite a certain similarity in composition these products, their effect average level i...

Background: Hemophilia B is an X-linked recessive coagulation disorder caused by factor IX deficiency.  Analysis of factor IX gene polymorphisms is considered the best approach for prenatal diagnosis and carrier detection of hemophilia B where the identification of gene mutation is not easily possible. Objective: To study the frequency of three factor IX-linked restriction fragment length polym...

background: hemophilia b is an x-linked recessive coagulation disorder caused by factor ix deficiency.  analysis of factor ix gene polymorphisms is considered the best approach for prenatal diagnosis and carrier detection of hemophilia b where the identification of gene mutation is not easily possible.   objective: to study the frequency of three factor ix-linked restriction fragment length pol...

Meta-analytic evidence supports a gene-environment (G×E) interaction between life stress and the serotonin transporter polymorphism (5-HTTLPR) on depression, but few studies have examined factors that influence detection of this effect, despite years of inconsistent results. We propose that the "candidate environment" (akin to a candidate gene) is key. Theory and evidence implicate major stress...

To determine the usefulness of MspI/int22h-1 (intron 22 homologous region-1) polymorphism of the factor VIII gene for molecular genetic diagnosis of hemophilia A in the Korean population, MspI/intron 22 and XbaI/intron 22 polymorphisms were analyzed in 101 unrelated Korean families with severe hemophilia A. The expected heterozygosity rates of MspI/int22h-1 and XbaI/int22h-1 polymorphisms ...