Literature DB >> 6226121

Inherited disorders in the Afrikaner population of southern Africa. Part I. Historical and demographic background, cardiovascular, neurological, metabolic and intestinal conditions.

M C Botha, P Beighton.   

Abstract

Certain genetic disorders occur with unusually high frequency in the Afrikaner population of southern Africa. Conditions of this type (reviewed in Part I of this article) include familial hypercholesterolaemia, progressive familial heart block, Huntington's chorea, porphyria variegata, Gaucher's disease, cystic fibrosis and familial colonic polyposis. This genetic situation is explicable to some extent on the basis of the demographic development of the Afrikaner population during the 14 generations since the arrival of the first immigrants from Holland more than 330 years ago.

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Year:  1983        PMID: 6226121

Source DB:  PubMed          Journal:  S Afr Med J


  13 in total

Review 1.  Medical genetics in South Africa.

Authors:  T Jenkins
Journal:  J Med Genet       Date:  1990-12       Impact factor: 6.318

2.  The estimation of selection coefficients in Afrikaners: Huntington disease, porphyria variegata, and lipoid proteinosis.

Authors:  O C Stine; K D Smith
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

3.  Of founder populations, long QT syndrome, and destiny.

Authors:  Paul A Brink; Peter J Schwartz
Journal:  Heart Rhythm       Date:  2009-09-03       Impact factor: 6.343

Review 4.  Genetics of inherited cardiomyopathies in Africa.

Authors:  Gasnat Shaboodien; Timothy F Spracklen; Stephen Kamuli; Polycarp Ndibangwi; Carla Van Niekerk; Ntobeko A B Ntusi
Journal:  Cardiovasc Diagn Ther       Date:  2020-04

5.  The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.

Authors:  J C Moolman-Smook; W J De Lange; E C Bruwer; P A Brink; V A Corfield
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

6.  Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.

Authors:  E Leitersdorf; D R Van der Westhuyzen; G A Coetzee; H H Hobbs
Journal:  J Clin Invest       Date:  1989-09       Impact factor: 14.808

7.  Homozygous hereditary C3 deficiency due to a partial gene deletion.

Authors:  M Botto; K Y Fong; A K So; R Barlow; R Routier; B J Morley; M J Walport
Journal:  Proc Natl Acad Sci U S A       Date:  1992-06-01       Impact factor: 11.205

8.  Familial hypercholesterolemia in South African Afrikaners. PvuII and StuI DNA polymorphisms in the LDL-receptor gene consistent with a predominating founder gene effect.

Authors:  P A Brink; L T Steyn; G A Coetzee; D R Van der Westhuyzen
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

9.  Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas.

Authors:  F Graadt van Roggen; D R van der Westhuyzen; A D Marais; W Gevers; G A Coetzee
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

10.  Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD.

Authors:  Lindsay Lambie; Rasheda Amin; Fahmida Essop; Avital Cnaan; Amanda Krause; Lisa M Guay-Woodford
Journal:  Pediatr Nephrol       Date:  2014-09-06       Impact factor: 3.714

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