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Biomedical subjects

J B Graham

Publications and source records attributed to J B Graham.

At least 91 records · Page 5Linked to original sources
PubMed1979

Major gene analysis of quantitative variation in blood clotting factor X levels.

Blood clotting factor ten (X) levels measured in 149 people in six pedigrees were found to fit a mixture of normal distributions. No environmental effect could be identified to account for the wide separation in the means of these distributions. Pedigree analysis reveals that the data are compatible with an autosomal, one locus, two allele genetic model affecting factor X activity. Goodness of fit tests suggest that the allele for low levels of factor X is dominant, though on the basis of likelihood tests, mean heterozygote levels are different from mean homozygote levels. A similar bimodal distribution for factor X levels observed previously in a separate sample of 207 young men, indicated that the proposed dominant allele has an estimated population gene frequency of .53. The earlier estimate is remarkably similar to that obtained with the currently ascertained pedigrees. The postulated major gene accounts for more than half of the variation in factor X levels.

Alleles↗
PubMed1978

Genetic exchange in Bacillus subtilis in soil.

Genetically labelled strains of Bacillus subtilis have been shown to exchange blocks of linked genes while growing together in soil. After eight days of incubation, 79% of unselected colony-forming units exhibited a phenotype containing markers from both parents; the parental strains were not detected after the first day of incubation. High frequencies of transformation were also obtained by adding genetically labelled deoxyribonucleic acid to single-strain soil cultures. Observed linkage of genetic markers was greater in soil transformation than in standard laboratory procedures. The results indicate that transformation may play an important role in the adaptation of the Bacilli to their natural habitat.

Bacillus subtilis↗
PubMed1978

Use of a simple visual assay of Willebrand factor for diagnosis and carrier identification.

A visual assay of factor VIII-related Willebrand factor (VIIIR:WF) is described which utilizes formaldehyde-fixed platelets, end points being read in microflocculation tiles. Four dilutions of a sample can be assessed simultaneously, and the correlation with aggregometric assays is high (r = 0.91). Measurement error is 8.0% for a single assay in triplicate and less than 5% if an assay is repeated three times. The method has been used for 2 years by the coagulation genetics group at Chapel Hill for diagnosing subjects with von Willebrand's disease and assigning genotypes to members of families transmitting this disorder. Its utility in classifying known carriers of haemophilia A has also been examined, both in conjunction with assays of VIII:C and in a three-way test with assays of VIII:C and VIIIR:Ag. As predicted by the Lyon hypothesis, the rate of false negative diagnosis was higher than false positive diagnosis, but the overall rate of misclassification on single plasma samples was 7/51 = 13.7%. The error rate was the same whether discrimination was based upon assays of VIII:C vs. VIIIR:Ag, VIII:C vs. VIIIR:WF, or VIII:C vs. VIIIR:Ag vs VIIIR:WF, the same individuals being misclassified by each method. The observed rate of misclassification was well within the rates reported by others and very similar to our previous experience. We have concluded that this method of assaying VIIIR:WF is highly useful for diagnosing vWd, detecting inhibitors to VIIIR:WF, and examining large numbers of column fractions. It is a useful supplement, although it cannot yet substitute for, assays of VIIIR:Ag in detecting carriers of haemophilia A.

Antigens↗
PubMed1978

Respiratory and hydrostatic functions of the intestine of the catfishes Hoplosternum thoracatum and Brochis splendens (Callichthyidae).

1. The air-breathing behaviour of Hoplosternum thoracatum and Brochis splendens has been studied and their strategy of coordinating the respiratory and hydrostatic functions of the accessory respiratory organ has been examined. 2. H. thoracatum and B. splendens are continuous but not obligate air-breathers and individuals of the former breathe air in synchrony with each other. 3. Frequency of air-breathing increased with increased activity in H. thoracatum. 4. Aquatic respiration (Vo2) in H. thoracatum decreased in hypoxic water but aerial Vo2 maintained a fairly constant total Vo2 independent of aquatic O2. Total Vo2 is higher when fish breathe both air and water but aerial Vo2 did not exceed 75% of total Vo2. 5. The accessory respiratory organ provides about 75% of the lift required to attain neutral buoyancy whereas the swimbladder provides less than 5%. The mean decreases in volume of the accessory respiratory organ in the period between breaths of B. splendens and H. thoracatum were 13.2 and 7.8% respectively. 6. With a gas phase of O2, B. splendens maintained a similar frequency of air breathing and showed a slightly greater reduction in buoyancy between air breaths when compared to breathing air. With a gas phase of N2, air breathing was less frequent and decreases in buoyancy between air breaths were much less than when breathing air. 7. The respiratory and hydrostatic functions of the accessory respiratory organ are compatible. Buoyancy is maintained by frequent air breaths taken in part in response to a decrease in volume of the accessory respiratory organ. This reservoir of O2 could increase metabolic scope during bursts of activity.

Animals↗
PubMed1976

The phenotypic range of hemophilia A carriers.

We have described the study of a small kindred with X-linked hemophilia A. It was ascertained through a clinically affected female, the daughter of a man with moderately severe hemophilia. The pedigree and the proband's phenotype suggest that she may be a heterozygote in whom most of the normal alleles at the VIII-1 locus are not active. She has two sisters, also obligatory carriers. The three sisters exhibit the three phenotypes possible for heterozygous females: clinically affected, clinically normal but phenotypically abnormal as determined by laboratory tests, and clinically and phenotypically normal.

Adult↗
PubMed1975

Dominant inheritance of hemophilia A in three generations of women.

A bleeding diathesis is described which is phenotypically indistinguishable from hemophilia A and which has been transmitted as a dominant trait in three generations of women in a North Carolina kindred. The abnormal phenotype is characterized by clinical mildness and slightly abnormal clotting time, prothrombin consumption, and partial thromboplastin time. Bleeding time, platelet count, clot retraction, tourniquet test, and prothrombin time are normal. Concentration of factors I, II, V, VII, IX, X, and XII are normal, while factor VIII activity is reduced to 2%-5% of control values. De novo synthesis of factor VIII does not occur after transfusion; factor VIII-related antigen is normal; patients' plasmas aggregate platelets normally in the presence of ristocetin, and a typical protein pattern is seen when a chymotryptic digest of cryoprecipitate of the proband is examined by SDS-polyacrylamide gel electrophoresis. Six possible genetic explanations are entertained. Balanced X-autosomal translocation of hemophilia A heterozygotes has been excluded by cytogenetic analysis of metaphase chromosomes. Classes von Willebrand's disease (vWd) is probably excluded on the basis of the laboratory data, and extreme lyonization of hemophilia A heterozygotes on probabilistic grounds. The genetic possibilities which cannot be excluded include a previously unrecognized variant mutation at the vWd locus, a dominant mutation at the hemophilia A locus on the X chromosome, and dominant mutation at a hypothetical fourth locus involved in factor VIII synthesis and control.

Animals↗