Genetic disease and childhood mortality.
Explore the source record for details and available documents.
Cause of Death↗
Biomedical subjects
D F Roberts
Publications and source records attributed to D F Roberts.
Population structure of the Peljesac Peninsula, Yugoslavia.
We gathered serogenetic and parent-offspring migration data from 604 residents of 7 villages on the Peljesac peninsula in southern Yugoslavia. A variety of population genetics and multivariate statistics models and procedures give a concordant picture of the population structure of this region. Extensive migration is the dominant microevolutionary force patterning the variation seen today. Multiple population bottlenecks have also occurred over the past few centuries as a result of disease, famine, war, economic failure, and founder events, making it likely that genetic drift has been an important factor in the history of this population system.
Adult↗
Migration and genetic structure in Northumberland.
To understand the genetic variation that occurs among regions of northern England, we estimated migration from places of birth and residence in the last two generations for a sample of 1367 families in Northumberland. There has been an increase in kinship among regions, compatible with the increased mobility of recent decades, but the kinship patterns suggest that any regional gene frequency differences have remained relatively undiluted. Comparison of kinship and geographic distance between regions indicates that geographic location is an important determinant of genetic structure.
Blood Grouping and Crossmatching↗
Genetic polymorphisms in Transkei Bantu.
Data are presented on blood group, serum protein and red cell enzyme polymorphisms in a sample of Transkei Bantu. The gene frequencies, compared with those in other populations in Southern Africa, show general similarity to other Bantu from Transkei and neighbouring regions, and particularly to the southern Sotho and Nguni. Some admixture from San is suggested by the directions in which frequencies in a number of systems diverge.
Black People↗
The contribution of HLA to rheumatoid arthritis.
The contribution of genes within the major histocompatibility complex to rheumatoid arthritis has been calculated (Rotter & Landaw 1984). Separate data from hospital- and population-based studies of monozygotic twin concordance rates and sibling recurrence risks have been used, along with material from published haplotype-sharing studies. Using either source of information gives the same result, a contribution of 37%.
Arthritis, Rheumatoid↗
PHA-induced interferon in multiple sclerosis: association between gamma interferon and clinical and genetical variables.
Gamma interferon (INF-gamma) production, after PHA stimulation of peripheral blood mononuclear cells, from multiple sclerosis (MS) patients with the acute remitting and chronic progressive forms, in attack and remission phases, and from normal controls, was studied by immunoradiometric assay. MS patients in all these 4 clinical states of disease produced less INF-gamma (log value range from 2.55 to 2.65). MNC from the total MS patients produced significantly low levels of INF-gamma compared to the control group (log values 2.60 vs. 2.82; P = 0.001). No association between the interferon production and antigens at any HLA locus (A, B, C, Dw and Bf) was found. There was no correlation between IFN-gamma production and age, sex, duration of disease, or disability index. However there was a slight tendency to negative correlation with the progression index of the disease. The results suggest that this lower IFN-gamma production in MS may be secondary to the disease, and the primary defect may be a severe reduction of the essential lymphocyte populations required for an effective lymphokine cascade to produce the normal immune response against infection.
Adult↗
Population frequencies of three DNA alleles linked to the Duchenne muscular dystrophy gene.
To enquire whether the known X linked probes linked to the Duchenne muscular dystrophy gene vary in their RFLP frequencies, three probes, 754, XJ1.1, and pERT87.8, were tested in European, Indian Muslim, and West African samples. Though the average heterozygosity for the three together is fairly similar in the three populations, significant differences in allele frequencies were evident.
Alleles↗
HLA antigens in three populations of India.
In blood samples from a Hindu population of Uttar Pradesh (North India) and from two Muslim groups, one from Andhra Pradesh (South India) and the other from Gujurat (West India), frequencies of 38 HLA-A, -B and -C antigens were investigated. Eight antigens - A23, A25, A29, A32, Bw45, B21, Bw22 and Bw53 - were absent in the Hindu population, four different antigens - A29, Bw52, B14 and Bw42 - were absent in Hyderabad Muslims, two antigens - A31 and Bw45 - were lacking in Surat Muslims. The three populations showed considerable genetic heterogeneity. The genetic difference between the two Muslim groups was small, but the Hindu population showed pronounced differences from each of the Muslim groups.
Gene Frequency↗
Genetic markers in Sjögren's syndrome: the question of its genetic heterogeneity.
Genetic factors may be implicated in the causation of Sjögren's syndrome (SS) as shown by familial clustering of the disease and certain HLA associations. Non-HLA genetic markers in SS have not previously been studied in detail. In this study of 122 unrelated patients with various categories of SS and 104 control subjects, 29 genetic markers were studied (11 blood groups, 5 serum proteins and 13 red-cell enzymes). Almost all systems showed a considerable range of gene frequency among the various subgroups of patients with SS but only a few attained statistical significance (C3 and GPT). Multivariate (kinship) analysis, however, showed clear distinction between the subgroups of SS, suggesting that they are genetically distinct entities.
Alleles↗
Differentiation of autoimmune ophthalmopathy from Graves' hyperthyroidism by analysis of genetic markers.
Graves' hyperthyroidism and dysthyroid eye disease are closely related autoimmune conditions. Whether the eye disease is an integral part of Graves' disease or a separate entity is controversial. To investigate this we have examined the genetic associations of ophthalmopathy and hyperthyroidism, and compared their phenotype and gene frequencies with a control normal population. HLA-A, B, and DR antigens were typed in 67 patients with dysthyroid eye disease (GO), 60 hyperthyroid patients without significant eye disease (HT) and 500 normal subjects. Patients were also typed for a variety of other genetic markers: blood group systems (10), serum proteins (6) and red cell enzyme systems (10). Increased frequency of B8 and DR3 in Graves' disease was confirmed; B17 occurred less frequently and appears to be protective. HLA antigen frequencies for GO did not differ from HT. The MNS blood group showed a significant association with Graves' disease, the HT patients having a deficit of the s gene compared with controls. The most interesting finding was an increased frequency of blood group P in GO patients compared with either HT or controls. Significant differences were not seen with any of the other HLA antigens, blood groups, protein or enzyme markers considered individually. Multivariate analysis applied first to the HLA and then to the non-HLA systems indicated clear separation of the two patient groups. Although Graves' eye disease shares the same HLA associations as hyperthyroidism, it differs in the increased frequency of P blood group, suggesting that additional genetic factors may determine which patients with Graves' disease develop ophthalmopathy.
Autoimmune Diseases↗
DNA polymorphisms, identified by an X-chromosome short-arm probe L 1.28 (DXS7), in different racial groups.
Restriction fragment length polymorphisms of the L1.28 probe which is closely linked to X-linked disorders, retinitis pigmentosa and Norrie disease, were studied in samples from England, India and Nigeria. The frequency of the A2 allele (9-kb fragment) was 0.23, 0.55 and 0.46 in England, India and Nigeria, respectively. The differences between the English and Indian populations were highly significant.
Alleles↗
Gc and PGM subtypes in northern Greece.
By isoelectric fucusing, Gc and PGM subtypes were examined in a sample of over 450 Greeks from Thessaloniki and surrounding areas. The gene frequencies are compared with those from other Greek and European samples.
Gene Frequency↗
Migration and genetic change. Raymond Pearl lecture 1987.
Explore the source record for details and available documents.
China↗
A case of disputed maternity.
It has been alleged that two Gujarati Muslim boys are not the sons of the woman who brought them to the United Kingdom, claiming them to be her sons. The father has recently died, but blood samples from the mother and her four daughters (whose parentage is not in doubt) allowed the paternal genotype to be deduced. Samples were tested for 9 blood-group systems (12 gene loci), 9 red-cell-enzyme systems, 6 serum protein types, 2 HLA loci, and 5 X-chromosome probes. There was no evidence of non-maternity of the two boys in any of these systems. The odds that the woman who claims to be the boys' mother, rather than any random Gujarati Muslim woman, is indeed the mother of the older boy are fourteen million to one, and that she is the mother of the younger boy five million to one.
DNA↗
Isolation by distance in Middle Dalmatia-Yugoslavia.
Parameters of Malécot's isolation-by-distance model are estimated for biological (anthropometric head and body dimensions, morphometric dimensions of metacarpal bones, quantitative and qualitative dermatoglyphic traits, and physiological/cardiorespiratory/variables) and linguistic distances and migrational kinship on the island of Korcula and the Peljesac peninsula in Middle Dalmatia, Croatia, Yugoslavia. Resulting parameters and the fit of the model are compared, for both regions, as well as with results of similar analysis in other parts of the world. The fit of the model is highly significant for migrational kinship and linguistic distances and less so for biological traits. Differences between these two populations, which live under basically similar ecological conditions, are explained by variation in biological and sociocultural history.
Adult↗
Linkage studies of HLA and rheumatoid arthritis in multicase families.
The linkage of rheumatoid arthritis (RA) to the HLA-DR locus was investigated in 17 families with multiple cases of RA. Log odds scores were computed using the Liped program; sibship associations were examined by 2 methods. The results showed a trend toward linkage which was short of significance. The results were similar for patients with classic or definite RA, with or without the inclusion of probable RA patients. The finding of strong association and weak linkage would suggest that it is DR4, itself, that is important in RA.
Arthritis, Rheumatoid↗
Classification of rheumatoid arthritis: the importance of including data from the siblings.
A discriminant analysis has been applied to physical and laboratory data on a series of 37 patients with rheumatoid arthritis (RA). Good discrimination was found between RA when it was associated with organ-specific autoimmune phenomena and when it was not. When data from other members of the families was included there was consistently better discrimination than when using data from the patients alone. The results suggest that future studies of classification of variable diseases should include study of relatives.
Adult↗
Association of HLA and other genetic markers in South Indian patients with pulmonary tuberculosis.
Histocompatibility antigens (A, B & C loci) and 23 other single gene characters were studied in 204 pulmonary tuberculosis patients belonging to a single endogamous group in South India. None of the previously reported associations with HLA antigens was confirmed, nor any new one found. The blood O and Rh negative associations were also not confirmed, although a new association with the Jk blood group system appears possible. Of particular interest is the association with the phosphoglucomutase (PGM1) system, which parallels that found in a different population located some 1000 km away. Relative risks were calculated to measure the resistance of individuals with the PGM1*2+ allele.
Blood Group Antigens↗