Refined localisation of the second gene for autosomal dominant polycystic kidney disease

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134098

Peters, D J.M.; Saris, J J; Spruit, L ^[1]

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1. Wassenaaseweg, Leiden (Netherlands); and others

The PKD1-gene responsible for autosomal dominant polycystic kidney disease in 85% of the families maps to chromosome 16q13. Last year the PKD2-gene was localized on chromosome 4q21-23 between the markers D4S231 and D4S231 and D4S423, an interval of about 8cM. In a collaborative effort to narrow down the PKD2-region, families with recombinants have been analyzed with several markers within the interval. First, an integrated map had to be constructed which contains previously published markers of different sources. To construct this map, cosmids and/or YACs isolated with the markers have been mapped by two-color FISH and were screened with the other markers. Affected recombinants localize the disease between D4S1534 and D4S1544.

• OSTI ID: 134098
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
DNA HYBRIDIZATION
DOMINANT MUTATIONS
FLUORESCENCE
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOME 16
KIDNEYS
PATIENTS
UROGENITAL SYSTEM DISEASES
YEASTS