A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2q
- INSERM, Paris (France); and others
A gene (NPH1) responsible for approximately 90% of the purely renal form of familial juvenile nephronophthisis, a progressive tubulo-interstitial kidney disorder, maps to human chromosome 2. We report the construction of a YAC-based contig spanning the critical NPH1 region and the flanking genetic markers. This physical map was integrated with a refined genetic map that restricted the NPH1 interval to about 2 cM; this interval corresponds to a maximum physical distance of 3.5 Mb. The entire contig covers 9 cM between the loci D2S135 and D2S121. The maximum physical distance between these two markers is approximately 11.3 Mb. Forty-five sequence-tagged sites, including six genes, have been located within this contig. PAX8, a member of the human paired box gene family, that is expressed in the developing kidney, was assigned outside the restricted NPH1 critical region and cannot therefore be regarded as a candidate gene. This set of overlapping clones represents a useful resource for further targeted development of genetic markers and for the characterization of candidate genes responsible for juvenile nephronophthisis. 26 refs., 2 figs., 3 tabs.
- OSTI ID:
- 437170
- Journal Information:
- Genomics, Journal Name: Genomics Journal Issue: 3 Vol. 30; ISSN GNMCEP; ISSN 0888-7543
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
AGE DEPENDENCE
BIOLOGICAL MARKERS
CONTIGS
DESIGN
DNA SEQUENCING
DNA-CLONING
ELECTROPHORESIS
GENE RECOMBINATION
GENE REGULATION
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 2
PATIENTS
POLYMERASE CHAIN REACTION
RECESSIVE MUTATIONS
UROGENITAL SYSTEM DISEASES