Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1)

Journal Article · Mon Aug 01 04:00:00 EDT 1994 · American Journal of Human Genetics; (United States)

OSTI ID:6872680

Snarey, A ^[1]; Thomas, S; Harris, P C ^[2]; Schneider, M C ^[3]; Pound, S E; Wright, A F ^[4]; Barton, N; Somlo, S; Germino, G G; Reeders, S T ^[5]

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1. Imperial Cancer Research Fund, London (United Kingdom)
2. Institute of Molecular Medicine, Oxford (United Kingdom)
3. Brigham and Women's Hospital, Boston, MA (United States)
4. Western General Hospital, Edinburgh (United Kingdom)
5. and others

The gene for autosomal dominant polycystic kidney disease (PKD1) is located on chromosome 16p, between the flanking markers D16S84 and D16S125 (26.6 prox). This region is 750 kb long and has been cloned. The authors have looked at the association of 10 polymorphic markers from the region, with the disease and with each other. This was done in a set of Scottish families that had previously shown association with D16S94, a marker proximal to the PKD1 region. They report significant association between two CA repeat markers and the disease but have not found evidence for a single founder haplotype in these families, indicating the presence of several mutations in this population. Their results favor a location of the PKD1 gene in the proximal part of the candidate region. 25 refs., 1 fig., 4 tabs.

• OSTI ID: 6872680
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 55:2; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BODY
CHROMOSOMES
DETECTION
DISEASES
GENES
HEREDITARY DISEASES
HUMAN CHROMOSOME 16
HUMAN CHROMOSOMES
KIDNEYS
ORGANS