Linked Life Data

2843768

Source:http://linkedlifedata.com/resource/pubmed/id/2843768

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
14
pubmed:dateCreated
1988-10-24
pubmed:abstractText
Autosomal dominant polycystic kidney disease has been shown to be closely linked to the alpha-hemoglobin complex on the short arm of chromosome 16. We describe a five-generation kindred, descendants of Sicilian immigrants, in which the disease occurs but without linkage to the alpha-hemoglobin complex. DNA probes were used in genetic-linkage studies on blood samples from 163 family members, of whom 71 were affected by or at risk for autosomal dominant polycystic kidney disease. Diagnoses were confirmed by ultrasound examination. In this family the frequency of recombination between the alpha-hemoglobin complex and the region previously shown to contain the mutation causing polycystic kidney disease exceeded 24 percent, indicating a mutation at a different locus. The clinical findings in this family were indistinguishable from those in other families with polycystic kidney disease. We conclude that there is a second gene for autosomal dominant polycystic kidney disease. This apparent heterogeneity means that prenatal and presymptomatic diagnosis must be approached with caution until a method is found to distinguish between the two forms of the disease.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0028-4793
pubmed:author
pubmed:issnType
Print
pubmed:day
6
pubmed:volume
319
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
913-8
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
Linkage heterogeneity of autosomal dominant polycystic kidney disease.
pubmed:affiliation
Boys Town National Institute, Omaha, NE 68131.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't