Linked Life Data

2799576

Source:http://linkedlifedata.com/resource/pubmed/id/2799576

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
1989-11-13
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0256-9574
pubmed:author
pubmed:issnType
Print
pubmed:day
7
pubmed:volume
76
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
321-3
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1989
pubmed:articleTitle
Autosomal recessive polycystic kidney disease. Evidence for high frequency of the gene in the Afrikaans-speaking population.
pubmed:affiliation
Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg.
pubmed:publicationType
Journal Article