GSTT1 null genotype increases risk of premenopausal breast cancer.

The NAT2, GSTM1 and GSTT1 genes are known candidate cancer susceptibility markers and have been investigated in breast cancer susceptibility with conflicting results. We conducted a case-control study to investigate the role of NAT2, GSTM1 and GSTT1 in premenopausal breast cancer. Women with the GSTT1 null genotype were found to have a significant 3.

Immunoglobulin allotypes and RFLPs in disease association.

Immunoglobulin heavy chain (Gm) and light chain (Km) allotypes have been extensively studied as possible markers of susceptibility to a range of immune-related diseases including malignancies, infectious diseases and autoimmune disorders. This review is concentrated on susceptibility to multiple sclerosis, systemic lupus erythematosus and insulin-dependent diabetes mellitus.

A correlation between digoxin plasma concentrations and systolic time intervals in hospitalized congestive heart failure patients.

Plasma digoxin level is at best an indirect measure of pharmacological response to digoxin in patients being treated for congestive heart failure. Systolic time interval (STI) measurement reflecting left ventricular function at the physiological site of action of digoxin, is both more direct and non-invasive. With a portable instrument to measure systolic time intervals, the measurement can also be convenient for hospital staff.

GM and KM allotypes and GM RFLP allogenotypes in Micronesians from Nauru.

Immunoglobulin allotypes of the GM and KM systems were determined in a sample of Micronesian subjects from Nauru. Four GM haplotypes were identified in the sample: GM*1,3 23 5, 10,11,13,14, GM*1,17 23' 21, GM*1,3 23' 5,10,11,13,14, and GM*1,2,17 23' 21, although the last of these may have been introduced by non-Micronesian admixture. The frequency of the KM*1 allele is 0.

ABO blood groups in hematologic malignancies.

This article examines the genetic predisposition of individuals to lymphoma and leukemia with regard to the ABO blood groups. Blood samples from 558 patients suffering from various forms of lymphoma and leukemia were collected and typed for ABO blood groups. The ABO blood group phenotype frequencies of lymphoma patients were similar to those in control samples.

An immunologic and genetic study of asthma in workers in an aluminum smelter.

The cause or causes of asthma among employees in aluminum smelters is unknown. We attempted to ascertain whether such workers who developed asthma differed in respect to indices of immunological function and certain genetic markers. Data were collected from 33 asthmatic and 127 nonasthmatic potroom workers.

Alpha-1-antitrypsin phenotypes in leukaemia and lymphoma.

Serum samples from 564 Caucasian patients suffering from either leukaemia or lymphoma were typed for the protease inhibitor (Pi) alpha-1-antitrypsin (AAT). No evidence was found for the predisposition of any Pi phenotype to leukaemia or lymphoma. However, the frequency of PiM3 was significantly lowered among patients with acute myeloid leukaemia.

Gm typing by immunoglobulin heavy-chain gene RFLP analysis.

This study was undertaken to investigate a means of assigning Gm allotypes to Caucasians by RFLP analysis. A single immunoglobulin heavy-chain gamma-4 cDNA probe (HU gamma 4) was hybridized with genomic DNA digested separately with two restriction enzymes, TaqI and PvuII. Results showed excellent correlation (P less than .

Immunoglobulin allotypes Gm and Km in hematologic malignancies.

Immunoglobulin allotypes of the Gm and Km systems have been compared in patients with various forms of hematologic malignancies and healthy controls of the same ethnographic background. These comparisons found an increased frequency of the haplotype Gm and a decreased frequency of Gm in patients with Hodgkin's disease; a decreased frequency of Gm in diffuse, large-cell lymphoma patients; a decreased frequency of Gm and an increased frequency of Gm in acute myeloid leukemia patients; a decreased frequency of Gm in chronic myeloid leukemia patients, and an increased frequency of the phenotype Km(1+) in chronic lymphocytic leukemia patients. These results support previous suggestions of the involvement of immunoglobulin allotypes in the susceptibility to some forms of human hematologic malignancy.

Genetic markers in Australian Caucasian subjects with coeliac disease.

A group of 69 unrelated Australian coeliac subjects (41 adult onset and 28 childhood onset) were typed for for HLA-A, B, DR and DQ antigens. Immunoglobulin allotypes were also determined in 36 of these patients. An association between coeliac disease and the antigens DR3, DR7 and DQw2 was confirmed in this population.

Occurrence of the immunoglobulin haplotypes Gm1,17;23;21 and Gm1,2,17;23;21 in a sample of Australian Caucasians.

Phenotypes positive for G2m(23) but negative for G1m(3) and G3m(5,10,11,13,14) are generally very infrequent in Caucasian populations. We recently Gm typed 372 Australian blood donors, predominantly of European descent, and found two Gm(1;23) and five Gm(1,2;23) individuals among them. This finding suggests that the haplotypes Gm1,17;23;21 and Gm1,2,17;23;21 may occur, in some European populations, with a frequency considerably higher than has been generally assumed.

Interaction between HLA antigens and immunoglobulin (Gm) allotypes in susceptibility to type I diabetes.

HLA-A,B,C and DR typing was performed on 108 Caucasian type I diabetic patients, 68 being Gm typed. The expected association with B8, B18, Bw62, DR3 and DR4 was observed as well as an excess of DR3/4 heterozygotes. DR2 was decreased in frequency.

Genetic linkage analysis of epidermolysis bullosa dystrophica, Cockayne-Touraine type.

Genetic linkage relationships between 27 informative marker loci and the locus for epidermolysis bullosa dystrophica, Cockayne-Touraine type (EBD-CT), were examined in a single large kindred. Linkage could not be demonstrated to any of the marker loci, further adding to the exclusion map for EBD-CT. The dominant forms of EBD so far delineated by clinical criteria and electron microscopy remain genetically undefined in terms of loci and allelism.

Genetic linkage analysis of epidermolysis bullosa simplex, Köbner type.

Genetic linkage relationships between a range of marker loci and the locus for epidermolysis bullosa simplex (EBS), Köbner type, were examined in a single kindred. A positive lod score of 1.2 at theta = 0.

A strong association between the antinuclear antibody anti-La (SS-B) and the kappa chain allotype Km(1).

The distribution of immunoglobulin allotypes of the Gm and Km systems was examined in 51 patients with antinuclear antibodies (ANA), which reacted with two saline-extractable non-DNA nuclear antigens, anti-La (SS-B) and anti-RNP, which characterize certain multisystem autoimmune diseases. Forty-six percent of the 26 patients with anti-La were positive for the Km(1) allotype compared with 14% of the 35 with anti-RNP and 16% of 1204 of healthy subjects (corrected P value less than 0.005).

A developmental study of body recognition in adolescent girls.

One hundred and fifty-seven pre-menarcheal, menarcheal and post-menarcheal girls were photographed in three orientations: front, side and rear. They were somatotyped and asked to identify themselves from an array of five photographs grouped according to height and linearity. A developmental sequence in accuracy of identification was found for frontal orientations.

Gm allotypes and multiple sclerosis.

Immunoglobulin allotypes (Gm) were analysed in 40 multiple sclerosis (MS) patients and the distribution of phenotypes compared to that in 1220 healthy controls. The frequencies of GM(1) and Gm(1, 2) are significantly increased inthe patients suggesting that the presence of the Gm3;5, 13, 14 haplotype confers a resistance to the development of MS.

Genetic analysis of systolic blood pressure in Melbourne families.

1. Circumstantial evidence suggests that immunological mechanisms might contribute to hypertension in man. If so, it would be expected that those genetic loci which influence the human immune response would also influence the risk of hypertension.