Rotavirus infection in high-incidence lactase-deficiency population.
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Black People↗
Biomedical subjects
T Jenkins
Publications and source records attributed to T Jenkins.
Structure and chemistry of the egg-shell of a nematode (Trichuris suis).
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Animals↗
Aniridia associated with microcornea and subluxated lenses.
Four cases of aniridia associated with subluxated lenses and microcornea are presented. The triad occurred in both eyes of the 4 affected members in one Ndebele family (one of the South African Negro tribes). No other ocular or systemic defects were noted, and intelligence was normal. Chromosomal studies on both parents showed no abnormality, and gene marker studies failed to reveal any linkage between the disease locus and a wide range of polymorphic loci.
Adolescent↗
Translocation of chromosome 4 and 9 with ring formation of chromosome 4 short arm.
Cytogenetic investigation of a 3-year-old mentally retarded boy revealed a translocation of the long arm of chromosome 4 onto the short arm of chromosome 9, with ring formation of the remaining short arm of chromosome 4. The clinical features are described and correlated with the cytogenetic findings. The behaviour of the ring derived from a deleted chromosome 4 is discussed.
Child, Preschool↗
X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical, and serogenetic studies.
Cytogenetic studies on a mentally retarded boy revealed an X-Y translocation, karyotype 46,X,t(X;Y)(p22;q11). Only 5 other such cases have been reported and these were all females. The unequivocal male phenotype suggested non-random inactivation of the normal maternally derived X chromosome, and that the non-inactivated X-Y translocation chromosome included the locus for male determination. Confirmation of this was provided by unassociated X and Y chromatin in interphase cells, as well as by reverse banding after BrdU incorporation and autoradiography of metaphase chromosomes. There was anomalous Xg blood group inheritance in the proband, indicating possible localisation of the Xg locus to the terminal portion of the X short arm. Linkage of Xg and a form of X-linked mental retardation is suggested. Close linkage of the Xg locus with the loci for alpha-galactosidase, phosphoglycerate kinase, G-6-PD, and MPS II was excluded.
Blood Group Antigens↗
Unusual sex hormone patterns among desert-dwelling hunter-gatherers.
Endocrine parameters were assayed in a San ("Bushman") population of Botswana in an attempt to correlate hormonal secretion and body morphology. Serum levels of gonadotrophins and gonadal steroids were measured by employing radioimmune methods. No evidence for elevated estrogens could be found and males showed endocrine levels comparable with European and South African Negro values. Females have suppressed circulating levels of gonadal steroids and little corpus luteum function. A mechanism by which the ovaries may be suppressed, thereby limiting conception to times of high nutrition, may exist in the San. This hypothesis may have a bearing on the observation that births reach peak levels during March and April.
Adult↗
Xeroderma pigmentosum [proceedings].
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Carcinoma, Squamous Cell↗
Keratolytic winter erythema or 'oudtshoorn skin': a newly recognized inherited dermatosis prevalent in South Africa.
A hitherto undescribed inherited dermatosis, traceable to certain 19th-century inhabitants of Oudtshoorn, CP, has been transmitted as an autosomal dominant to a large number of their present-day descendants. The disease consists of intermittent and recurrent centrifugal peeling, with redness, of the palms and soles in particular. In more severe cases similar patches are found extending up the limbs to the buttocks and the trunk generally. The inconvenience is usually moderate, but it may be incapacitating. Some temporary relief, but so far nothing permanent, can be offered through treatment.
Adolescent↗
Haemolytic anaemia due to erythrocyte pyrimidine 5'-nucleotidase deficiency. Report of the first South African family.
The first South African case of haemolytic anaemia due to erythrocyte pyrimidine 5'-nucleotidase deficiency is reported. The anaemia is characterized by the presence of high erythrocyte pyrimidine nucleotide levels and marked basophilic stippling. The enzyme levels in 20 family members confirm an autosomal recessive mode of inheritance and illustrate the difficulty of diagnosing the carrier state.
Anemia, Hemolytic↗
Endocrine studies on the San ('bushmen') of Botswana.
Gonadal and gonadotrophic hormones were assayed in members of !Kung population who live in north-western Ngamiland, Botswana, and who are true San ('Bushmen') hunter-gatherers. An attempt was made to correlate their hormonal secretion and morphology. Peripheral serum levels of gonadotrophins and gonadal steroids were measured by means of radio-immune methods. Female San appear to have suppressed circulating levels of gonadal steroids, while gonadotrophins were in the normal range. No evidence for elevated circulating levels of oestrogen could be found. Male San showed hormone levels similar to Caucasoid and Negro ('Bantu') values.
Adult↗
The red-cell glutamic-pyruvate transaminase, carbonic anhydrase I and II and esterase D polymorphisms in the Ambo populations of South West Africa, with evidence for the existence of an EsDo allele.
This study presents the results of the investigation of the seven closely interrelated Ambo peoples of South West Africa, for variation in four recently described red cell enzyme polymorphisms. Variation was found in only three of these, but was sufficient to provide stron evidence that the Ambo divided into two main ancestral groups prior to their subsequent fissions. There is evidence, not yet absolutely conclusive, that a null allele for esterase D occurs at least among the Kwambi.
Alanine Transaminase↗
The role of screening in the prevention of inherited disease in South Africa.
It is now possible to screen for the presence of the carrier state of a number of inherited diseases. Such screening can alert one to the need for antenatal diagnosis where feasible, it can ensure that early treatment is given to affected infants, and it can assist carriers in reaching a decision about having children. Facilities for certain types of screening already exist in some centres in South Africa, and new techniques will be introduced in the future.
Adult↗
Tay-Sachs disease screening and prevention in South Africa.
Tay-Sachs disease is potentially preventable in Ashkenazi Jewish communities. About 1 out of 25 individuals is a carrier of the gene and can be accurately identified by means of a simple, inexpensive blood test. 'At risk' couples, i.e. couples of whom both partners are carriers, can be enabled, by means of prenatal diagnosis and selective abortion, to have only unaffected children. Mass screening programmes have been successfully carried out in the USA, Canada and Israel. A discussion of South African Jewish deomgraphy, attitudes to health, and priorities for public health projects, provide the background to a consideration of Tay-Sachs disease prevention in South Africa.
Attitude to Health↗
Glucose-6-phosphate dehydrogenase Porbandar: a new slow variant with slightly reduced activity in a South African family of Indian descent.
A new variant of the red cell enzyme glucose-6-phosphate dehydrogenase has been detected in a South African male of Indian descent and in several of his relatives. The enzyme variant is characterized by slow electrophoretic mobility, low Michaelis constants for the substrates glucose-6-phosphate and NADP, and increased utilization of the substrate analogues 2-deoxyglucose-6-phosphate and deamino-NADP relative to the normal (B+) enzyme. There is no evidence that the enzyme variant, for which the name "G6PD Porbandar" is suggested, is associated with any hematological abnormality.
Anemia↗
Trichuris suis and T. muris: elemental analysis of intestinal inclusions.
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Animals↗
Serogenetic studies on the Kavango peoples of South West Africa.
The closely interrelated matrilineal Kavango peoples of the far north-east of South West Africa are probably the least known inhabitants of that country. Their traditional historical and cultural affinities appear to be with the peoples of southern Angola and south-western Zambia; the suggested relationships with the Ambo further west are not linguistically tenable, though there is evidence of gene exchange. The Kavango comprise the Kwangali, the Mbunza, whom they are in process of absorbing, the Sambyu, the Gciriku, the Mbukushu and the Kwengo. The last-named of these have hitherto been accounted "Black Bushmen", but the serogenetic investigation of these peoples described here discloses that the affinities of the Kwengo are with their neighbours the Mbukushu, and they must therefore be accounted Negro rather than San. Genetic distance calculations are compatible with traditional history and hence with the suggestion that all these peoples share a fairly recent common origin.
ABO Blood-Group System↗
Sero-genetic studies on the San of South West Africa.
The San, a physically, culturally and linguistically distinctive people, have been shown by archaeological records anciently to have inhabited the whole of Eastern and Southern Africa. They, in common with the Khoi, the other members of the Khoisan race, are confined now to Southern Africa and principally to Botswana and South West Africa, though a number are also found in Angola. Sero-genetic data concerning seven South West African groups are presented in this study, and confirm a shared overall genetic profile characteristic of the San in general, slightly different from that of the Khoi and in significant contrast with that of the Negroes.
ABO Blood-Group System↗
Red cell enzyme polymorphisms in the Yoruba.
In this study are presented the results of an investigation of variation in 17 red cell enzyme systems in the Yoruba, a Negro population of western Nigeria. Nine of the systems were found not to be polymorphic. The other eight systems revealed a close resemblance to the Negroes of Southern Africa, and a marked contrast with the San ('Bushmen'). The Yoruba have a history of many centuries of urbanization, while the Southern African Negroes have only recently begun to inhabit large towns. It would appear not only that the polymorphisms investigated are irrelevant to adaptation to urban conditions, but also that no selective forces, and very little drift, has operated on them since the remote ancestral separation of the populations. These results also suggest that the Khoisan contribution to the Southern African Negro gene pool might not be as uniform or as considerable as might be supposed.
Acid Phosphatase↗