OBJECTIVE In this study, we describe a previously unrecognized murine extracellular superoxide dismutase (ecSOD) allele and examine its distribution among various strains and its effect on the ecSOD phenotype. METHODS AND RESULTS Polymerase chain reaction analysis of genomic and cDNA from apolipoprotein E/LDLR-/- mice indicates the presence of 2 distinct transcripts for this enzyme independen...

We studied sequence variations in the regulatory region of the bovine growth hormone receptor gene. A polymerase chain reaction (PCR)-based method for detecting AluI, AccI, and StuI restriction fragment length polymorphisms (RFLPs) in the 5' flanking region of the bovine growth hormone receptor gene was developed and tested for association with milk-related traits in Holstein bulls. Allele freq...

We have characterized the factor V protein and cDNA of a patient displaying factor V deficiency (parahemophilia) and correlated the reduced activity with a missense mutation of Ala221-to-Val. Plasma from the subject individual (C1) presented reduced factor V antigen (39% of normal) that displayed reduced activity (approximately 26% of normal). Factor V purified from this individual by standard ...

CONTEXT The HTTLPR, a functional polymorphism of the serotonin transporter gene solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), promoter, affects transcription and may be involved in antidepressant drug treatment outcome, although response rates with antidepressants can be lower in patients who experience adverse effects. OBJECTIVE To test the hypothesis ...

The enzyme flavonoid 3?,5?-hydroxylase (F3?5?H) plays an important role in producing anthocyanin pigments soybean. Loss of function the W1 locus encoding F3?5?H always produces white flowers. However, few color variations have been reported wild In present study, we isolated a new variant soybean accession (IT261811) with pinkish-white We found that flower’s is caused by w1-s3, single recessive...

background: in the previous study, we have shown that the presence of a allele at position -588 in aγ-globin gene was highly frequent and closely associated with fetal hemoglobin elevation among β-thalassemia intermedia patients. therefore, we decided to investigate whether this allele (a allele at -588) could result in an increase in aγ-globin gene expression to ameliorate the severity of the ...

There is considerable evidence to support a role of dopamine-related genes in the molecular aetiology of attention-deficit hyperactivity disorder (ADHD). A 48 bp repeat in exon three of the dopamine D4 receptor gene has been widely studied in clinical ADHD samples, and a meta-analysis of published studies suggests it is associated with ADHD. A number of other polymorphisms across this gene have...

The original pink-eyed dilution (p) on chromosome 7 is a very old spontaneous mutation in mice. The oculocutaneous albinism II (Oca2) gene has previously been identified as the p gene. Oca2 transcripts have been shown to be absent in the skin of SJL/J mice with the original p mutant allele (Oca2(p)); however, the molecular genetic lesion underlying the original Oca2(p) allele has never been rep...

We study the genetic basis of adaptation in a moving optimum model, in which the optimal value for a quantitative trait increases over time at a constant rate. We first analyze a one-locus two-allele model with recurrent mutation, for which we derive accurate analytical approximations for (i) the time at which a previously deleterious allele becomes beneficial, (ii) the waiting time for a succe...

To identify which polymorphic residues determine the allospecific antibody binding sites on A beta polypeptides, mutant Ak beta genes were constructed encoding single or multiple amino acids of the d allele at 14 polymorphic positions in the beta 1 domain. Cell lines expressing these genes were analyzed by quantitative immunofluorescence using 16 mAbs reactive to Ak beta or Ad beta. Substitutio...