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Biomedical subjects

T Jenkins

Publications and source records attributed to T Jenkins.

At least 127 records · Page 7Linked to original sources

The usefulness of various polymorphisms in paternity testing. Experience with three southern African populations.

Genetic studies have been carried out on 1,059 cases (involving 3,177 blood samples) of disputed paternity. Seventeen polymorphic systems, representing 21 loci, have been used on all the cases and an additional 11 system (12 loci) were used when an exclusion on only one of the system was obtained. The overall rate of exclusion was 34.0% and the data were analysed according to the population from which the case came (white, 'coloured' or black). HLA is the most informative system in all three populations, followed by PGM1, with the rhesus blood group the next most useful in the whites and 'coloured's, whereas ABO is the next most useful in the blacks. The probability of excluding a man falsely accused of paternity was 99.1% in the black, 99.4% in the white and 99.7% in the 'coloured' populations. The data were also used to calculate the probability of paternity in the cases in which an exclusion could not be demonstrated; values of over 98% were found in 98.5% of whites, 98.8% of 'coloureds' and 90% of blacks; a further 9.1% of blacks gave values of 95.1 - 98.0%. The range of genetic markers, representing red cell antigen, red cell enzyme, serum protein and HLA polymorphisms used in this study, meets the requirements of an efficient paternity testing service.

Black People↗

A decade of mid-trimester amniocentesis in Johannesburg. Prenatal diagnosis, problems and counselling.

Selected data from 4,554 cases of amniocentesis performed in Johannesburg over a decade are presented. The demand for the service increased fivefold over the 10 years. The indications were: chromosome defects (83%), neural tube defects (11%), other disorders (4%) and parental anxiety (2%). A correct prenatal diagnosis was made in 99.9% of cases and sexing was correct in 99.6% of cases. Abnormalities were detected in 3.2% of pregnancies. The rate of 'spontaneous' abortion within 1 week after amniocentesis was 0.7%, and the total 16-28-week fetal loss rate is not much increased over the risk for such an event in any second-trimester pregnancy. The procedure has become a safe and a successful one in expert hands.

Abortion, Incomplete↗

Autosomal recessive polycystic kidney disease. Evidence for high frequency of the gene in the Afrikaans-speaking population.

Polycystic kidney disease was investigated in 28 families in which at least one member attended the paediatric nephrology clinic at a Johannesburg or Pretoria hospital. Twenty-five (89.3%) of the families had autosomal recessive polycystic kidney disease (ARPKD), and of these a significantly larger number than would have been expected (92%) were Afrikaans-speaking. There was a consanguineous marriage in the ancestry of 2 patients but 6 of the families (26%) had ancestors with one surname in common and 7 of the families (28%) had their origin in the western Transvaal. A point prevalence for ARPKD of 1:26,000 was estimated for the Afrikaans population (based on the age cohort 0 - 19 years) and the carrier rate for the gene was 1:83; on the basis of the live-birth rate for ARPKD of 1:11,000 the carrier rate is 1:53. These findings suggest that ARPKD may be unusually frequent in the Afrikaans-speaking population. A founder effect is probably responsible.

Female↗