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Biomedical subjects

D F Roberts

Publications and source records attributed to D F Roberts.

At least 91 records · Page 5Linked to original sources

Hereditary spastic paraplegia: a clinical and genetic study of cases in the north-east of England.

Patients in the north-east of England with hereditary spastic paraplegia and their immediate families were examined clinically and studied for evidence of linkage or association with polymorphic genetic systems. There were no observable clinical differences between patients with and without a positive family history. Family histories were compatible with autosomal dominant transmission, there was no evidence of linkage with any system, but there was a significant association with HLA-A1.

Adolescent↗

Growth in Hyderabad boys of various language groups.

Possible differences in the growth of boys of four language groups were investigated by anthropometric measurements in a sample of 582 boys of documented age from a Hyderabad school. Correlation of all body measurements with age was sufficiently close over the age range studied to allow linear regressions on age to be fitted. Covariance analysis suggested a difference in trunk length, with Telugu speakers having longer trunks than the other language groups, both absolutely and after stature was taken into account.

Adolescent↗

Family study of antipyrine clearance.

Antipyrine clearance was measured in 208 healthy volunteers from 78 families. After the values had been corrected for weight and sex, antipyrine clearance was observed to be significantly correlated between siblings (r = 0.590) and between spouses (r = 0.320), but not between parents and their offspring. After the clearance values had been corrected for tobacco and oral contraceptive use, there was still no significant correlation between parents and offspring. These results are incompatible with the hypothesis that antipyrine clearance is primarily determined by genetic factors and indicate that environmental influences predominate.

Adolescent↗

Population genetics of the group specific component (Gc) and phosphoglucomutase (PGM1) studied by isoelectric focusing.

For the determination of the group-specific component (Gc) and phosphoglucomutase (PGM1) phenotypes, isoelectric focusing was performed on two samples, one of Jat Sikh of northwest India, the other of northeast English. The subtype frequencies of these two systems do not differentiate the two populations sampled. Synthesis of the existing data shows distinct PGM1 and Gc subtype frequencies in various ethnic and racial groups. The anthropological implication of these subtype frequencies is discussed.

Alleles↗

The genetic contribution to multiple sclerosis. Evidence from North-East England.

A study of 206 patients with multiple sclerosis in the north-east of England and their families shows no evidence of monogenic involvement in the disorder. Much more likely is a multifactorial etiology in which the genetic component is polygenic. On this model the heritability is calculated at 52.1% or 40.9% if age variation in incidence is allowed for. The genetic component is present but no more then moderate in extent.

Adult↗

The relationship between individual dietary constituents and antipyrine metabolism in Indo-Pakistani immigrants to Britain.

1 Antipyrine clearance has been measured from serial saliva samples in 36 healthy adult Indo-Pakistani immigrants to Britain, to assess the effect of dietary differences within this population. 2 Clearance (mean +/- s.e. mean) was significantly slower in 16 lactovegetarians (0.54 +/- 0.06 ml min -1 kg -1) than in the subjects who ate meat regularly (0.91 +/-0.07 ml min -1 kg -1). 3 The absence of meat from the diet was associated with a significantly smaller daily intake of dietary protein, which was abnormally low by Western standards. 4 It is likely that the contrast in daily protein intake between the dietary subgroups was largely responsible for the differences observed in antipyrine clearance.

Adult↗

A note on association of Bf and glomerulonephritis.

In a study of 86 histologically defined glomerulonephritis patients, a striking association between the BfF allele and glomerulonephritis has been found. There is also an enhanced genetic predisposition to glomerulonephritis in individuals with rare Bf alleles. The role of the chromosome 6 loci in the pathogenesis of the disease is emphasized.

Alleles↗

Group-specific component (Gc) subtypes and schizophrenia.

Two hundred and fifteen schizophrenic patients (108 males and 107 females) in north-east England have been investigated for Gc types and subtypes and compared with the frequencies in first-degree relatives and controls. Böök et al. (1978) described Gc2 allele association with schizophrenia. No such association was found with the Gc2 allele in the present study although there is a tendency towards an increased frequency in females. In subtype allele frequencies the female patients showed a significant reduction of Gc1S allele. The results suggest a difference in susceptibility associated with the Gc locus in patients of different sexes.

Alleles↗

Congenital hypothyroidism and HLA.

HLA-A, B and C antigens tested in 97 patients treated for congenital hypothyroidism, and in members of their families, are compared with normal frequencies from 635 controls. After adjustment for the number of tests, there remains in the patients only a negative association with A11, with a relative risk of .190, and no significant association in the relatives. Patients show no excess homozygosity and no deviations in haplotype frequency. Congenital hypothyroidism thus appears to show a different relationship with HLA from other thyroid disorders.

Adolescent↗

A search for genetic influence in idiopathic inflammatory myopathy.

33 patients with idiopathic inflammatory myopathies (polymyositis or dermatomyositis) and 45 of their first-degree relatives were investigated in a search for any influence of genetic factors in these diseases. None of the relatives had evidence of an inflammatory myopathy but 13 had some other autoimmune disease. Mean serum IgG levels were reduced and serum C3c concentration increased both in patients and relatives. Levels of IgM were reduced and C4 increased in some groups of patients. The incidence of autoantibodies was increased in the patient group, particularly in those with isolated dermatomyositis or other systemic features, but not in the relatives. HLA, blood group and other genetic markers showed no deviation from normal population frequencies. Evidence favouring a genetic influence on the etiology of idiopathic inflammatory myopathy is restricted to disturbance of levels of some Ig and complement components, and for these there may be other explanations.

Adolescent↗

Genetic factors in puerperal affective psychoses.

The hypothesis that puerperal affective psychosis (PAP) is genetically related to manic-depressive disorder was tested by comparing the morbidity risks for puerperal and non-puerperal affective disorders in the relatives of 17 PAP subjects and 20 parous manic-depressives (PMD) with no history of puerperal illness. The risk for affective disorder (mania, depression or suicide) and puerperal affective disorder was the same in the two groups of relatives and the test hypothesis was accepted, although the sample size was small. The frequencies of HLA-A, B and C locus antigens, nine blood group antigens and 10 red blood cell isoenzymes were not significantly different in the PAP and PMD subjects, showing that in this series genetic markers do not distinguish puerperal from non-puerperal affective psychoses.

Adult↗

Digital dermatoglyphics of the Samaritans.

Analysis of digital dermatoglyphics in a sample of 109 Samaritans in Cholon, Israel, suggests in several quantitative measures reduction in variance by comparison with the limited data available from populations elsewhere. Such reduction would be expected in an inbred population. It is not clear whether this is due to Samaritan inbreeding, or is a general feature of Middle-East populations. The Samaritans tend toward the extreme of the Middle-East range of pattern frequencies, but are not grossly different in any of the conventional descriptive dermatoglyphic variables. Principal component analysis suggests slight differences in eigenvalues and differing distributions of the eigenvectors over the digits but, despite some random fluctuation due to sample size, the principal components observed in other populations are also detectable in the Samaritans.

Consanguinity↗