Amniotic-fluid acetylcholinesterase and neural-tube defects.
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Biomedical subjects
Publications and source records attributed to D F Roberts.
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Principal components analysis of quantitative digital dermatoglyphics in a large Oxfordshire sample, subdivided into male, female, urban, and rural subsamples, suggests several distinguishable components. These appear meaningful biologically in that they resemble factors of limb growth, as suggested by evidence from disturbances in limb extremity development. The components are consistent in all four subsamples and are very similar to those identified in a large sample of Berkshire data. It is suggested that digital quantitative dermatoglyphic variation may provide an example of genetic field theory.
Heterogeneity of gene frequencies in the polymorphism of the third component of complement among local samples in Iraq is analysed. It appears to derive essentially from population and not from regional differences.
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In a series of eight patients with retinoblastoma, one was found to have a reciprocal translocation of chromosomes 1 and 13. The breakpoint on chromosome 13 is at band q12, which suggests that the retinoblastoma locus is less distal than previously thought.
Serum levels of immunoglobulins A, G and M in the population of multiple sclerosis patients in Orkney were generally similar to those in series of contiguous and discontiguous controls, and in the normal first-degree relatives both of patients and controls. There is a slight elevation of mean log IgE in patients, and this is due mainly to elevation in the rural patients. Factors possibly responsible are sought, but none can be clearly identified.
In a family study of all patients with multiple sclerosis (MS) in Orkney, the number of inbred among patients, although high for Britain, is not higher than the number among controls, and the inbreeding coefficients appear to eliminate recessive involvement of rare genes from the aetiology. The kinship coefficients show that the ancestries of patients and controls are closely enmeshed, and eliminate from the aetiology involvement of recently introduced genes dominant or codominant in effect. Family histories show that single locus inheritance is unlikely unless penetrance is very low. Multifactorial genetic involvement is much more likely, and it is compatible with all recent findings; on this hypothesis heritability estimates, not altogether satisfactory because of the limited number of patients in the population, suggest that the genetic contribution to the aetiology of the disease in Orkney is only moderate.
Study of the blood group, isoenzyme, and serum protein systems representing polymorphic variants at 23 loci, in a population of 53 multiple sclerosis patients in Orkney, their relatives, and control series, showed that patients were neither morre homozygous nor more inbred than controls. Any possible association of the disorder with the ABO and rhesus blood groups was not directly causal, but was related to the families of the patients rather than to the patients themselves.
Genetic predisposition to Hashimoto's thyroiditis is suggested by its striking aggregation in families and its occurrence in twins. The manifestations range from overt clinical and biochemical hypothyroidism to the detection of thyroid autoantibodies in healthy, symptom-free individuals and their relatives. So far as the authors are aware, the finding of Hashimoto's thyroiditis in identical triplets has not previously been reported and they therefore present the cases of Faith, Hope and Charity, 63-year-old triplet sisters.
The distribution of C'3 phenotypes was studied in one tribal and three urban populations from India. The C'3F gene was found low in frequency compared to European and West Asian populations. Quantitatively also, the concentration of the C3 component in the Indian region was found significantly low to the European and West Asian populations reported previously.
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Examination of blood groups, plasma proteins and red cell enzyme types (23 loci), in a sample of 145 Bhils, a tribal group of Madhya Pradesh, Central India, demonstrates their genetic uniqueness. They differ in a number of systems from the nearby nontribal groups both of Hindus and Muslims. The results suggest that the Bhil frequencies include vestiges of the ancestral genepool of a more widespread aboriginal population whose influence is detectable in the gene frequencies of some other populations in India.
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In a dermatoglyphic study of 101 patients with dermatitis herpetiformis, comparison was made with their normal relatives and several random normal series. The results of the several comparisons are quite consistent, considering the nature of the data, for the all point to an attenuation of qualitative and quantitative digital and palmar traits in the patients. It is argued that these differences are associated with the disease itself, and that some of the female relatives have an inherited tendency to the disorder, but do not express it. The findings suggest the involvement of genetic factors in the aetiology, and possibly intrauterine environmental influences as well.
Heritability of stature in a West African population is calculated from longitudinal data collected over 26 years. Statistical and analytical difficulties encountered in the study include those due to variation in stature with age, sex, recording and measuring, variation in number of offspring, variation in number of spouses, and heterogeneity of within-sibship variances. The structure of the population allows a half-sib analysis which is particularly useful in interpretation of the intrafamilial correlations and regressions. The heritability estimate of 0.6 appears lower than that from studies in European populations. The environmental contribution to the stature variance is pronounced, but is not unexpected in the light of the rigours of the traditional way of life in West African surroundings.
Knowledge of the genetic control of human fetal growth is obtained indirectly from several different lines of evidence. Simply inherited pathological conditions indicate the number and effects of the corresponding normal alleles, and demonstrate the complexity of genetic factors in fetal growth, the interaction of quantitative and qualitative control, the large number of genes involved, and the pleiotropic effect of many. Information on genetic mechanisms shows that a cell at any one time responds to only a small proportion of its genes. Knowledge of human polymorphisms indicates that genetic control is exercised by switch mechanisms which bring into play a succession of genes producing different polypeptide chains. Implicit in this model is tissue specificity of isoenzymes, and temporal variation in their availability or activity during development, for both of which evidence is adduced. Such temporal changes do not coincide in different tissues, but vary according to physiological requirements of the tissues. Besides the sequential activation of genes, other mechanisms controlling the implementation of their instructions operate at all points from the replication of the genes, transcription, translation, to the final modification of their primary products.