HLA antigens in South African Afrikaners with heterozygous familial hypercholesterolaemia.
نویسندگان
چکیده
normal pulp cavities exclude dentinogenesis imperfecta". In the dentine abnormalities that may be associated with osteogenesis imperfecta, the pulp chambers and root canals are either progessively obliterated by the continuous deposition of highly disorganised dentine, or the pulp chambers are larger than normal by a failure of deposition. It is not possible to ascertain whether or not the pulp chambers are in fact enlarged, or to measure the amount of obliteration without taking periapical radiographs and comparing them with age matched controls. There is also no mention in the article about tooth crown morphology or if, in fact, the teeth are smaller with cusp tips closer together than normal. Nor is there any reference to the presence or absence of short tapering roots. Although discoloration and opalescence are the more easily observed signs of abnormality, they are not the only criteria for the classification of dentinogenesis imperfecta.
منابع مشابه
Recurrent LDL-receptor mutation causes familial hypercholesterolaemia in South African coloureds and Afrikaners.
Three low-density lipoprotein receptor (LDLR) gene mutations were previously shown to cause familial hypercholesterolaemia (FH) in up to 90% of affected Afrikaners. Association of each mutation with a single chromosomal background provided molecular genetic evidence that the proposed 'founder gene effect' was responsible for the high prevalence of FH among white Afrikaners. In this study we rep...
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This review discusses the 1987 article by Wyndham, Seftel, Pilcher and Baker on familial hypercholesterolaemia (FH) and myocardial infarction (MI) in young Afrikaners, in terms of the significance at the time of publication, as well as the relevance of their findings versus current observations on hypercholesterolaemia in South Africa. Risk factors for coronary heart disease (CHD) were investig...
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The prevalence of familial hypercholesterolaemia (FH) is significantly higher in the Afrikaans speaking population (Afrikaners) of South Africa than reported in most other populations. A founder gene effect has been proposed to explain the high FH frequency, implying that the same low density lipoprotein (LDL) receptor gene defect is present in the majority of affected Afrikaners. By using DNA ...
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We describe the presence of a linkage disequilibrium between high cholesterol levels in Afrikaner individuals and the common allele of the Pvu II restriction fragment polymorphism on the low-density lipoprotein (LDL) receptor gene. The frequencies of the common and the rare allele in a sample of the Afrikaner population were 0.654 and 0.346 (65 individuals) and 0.794 and 0.206 in the hyperchole...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 22 4 شماره
صفحات -
تاریخ انتشار 1985