Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus

Journal Article · Fri Jan 20 04:00:00 EST 1995 · Genomics

DOI:https://doi.org/10.1016/0888-7543(95)80040-S· OSTI ID:250154

Hellsten, E; Vesa, J; Peltonen, L ^[1]

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1. National Public Health Institute, Helsinki (Finland); and others

Infantile neuronal ceroid lipofuscinosis (INCL, CLN1) is a neurodegenerative disorder in which the biochemical defect is unknown. We earlier assigned the disease locus to chromosome 1p32 in the immediate vicinity of the highly informative HY-TM1 marker by linkage and linkage disequilibrium analysis. Here we report the construction of PFGE maps on the CLN1 region covering a total of 4 Mb of this relatively poorly mapped chromosomal region. We established the order of loci at 1p32 as tel-D1S57-L-myc-HY-TM1-rlf-COL9A2-D1S193-D1S62-D1S211-cen by combining data obtained from analysis of a chromosome 1 somatic cell hybrid panel, PFGE, and interphase FISH. We isolated YACs and constructed two separate YAC contigs, the loci L-myc, HY-TM1, rlf, and COL9A2 being present on a 1000-kb contig and the markers D1S193, D1S62, and D1S211 on a YAC contig spanning a maximum of 860 kb. Within the 1000-kb contig we were able to identify five CpG islands in addition to those associated with the earlier cloned genes. The YAC contigs as well as the physical map provide us with tools for the identification of the INCL gene. 36 refs., 4 figs., 3 tabs.

• OSTI ID: 250154
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 2 Vol. 25; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AGE DEPENDENCE
BIOLOGICAL MARKERS
CONTIGS
DNA HYBRIDIZATION
DNA-CLONING
ELECTROPHORESIS
FLUORESCENCE
GENES
GENETIC MAPPING
HUMAN CHROMOSOME 1
HYBRIDIZATION
NERVOUS SYSTEM DISEASES
NUCLEOTIDES
SOMATIC CELLS
STATISTICS
YEASTS