title: Genome-wide search for CLN2, the gene causing late-infantile neuronal ceroid-lipofuscinosis (LNCL).
abstract: The loci for the juvenile (CLN3) and infantile (CLN1) neuronal ceroid lipofuscinosis (NCL) types have been mapped by genetic linkage analysis to chromosome arms 16p and 1p, respectively. The late-infantile defect CLN2 has not yet been mapped, although linkage analysis with tightly linked markers excludes it from both the JNCL and INCL loci. We have initiated a genome-wide search for the LNCL gene, taking advantage of the large collection of highly polymorphic markers that has been developed through the Human Genome Initiative. The high degree of heterozygosity of these markers makes it feasible to carry out successful linkage analysis in small nuclear families, such as found in LNCL. Our current collection of LNCL pedigrees includes 19 US families and 11 Costa Rican families. To date, we have completed typing with over 50 markers on chromosomes 2, 9, 13, and 18-22. The results of this analysis formally exclude about 10% of the human genome as the location of the LNCL gene.
authors.affiliation: Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129, USA.
authors.forename: J L
authors.initials: JL
authors.lastname: Haines
authors.forename: R M
authors.initials: RM
authors.lastname: Boustany
authors.forename: T
authors.initials: T
authors.lastname: Worster
authors.forename: M
authors.initials: M
authors.lastname: Ter-Minassian
authors.forename: P
authors.initials: P
authors.lastname: Jondro
authors.forename: T J
authors.initials: TJ
authors.lastname: Lerner
mesh_terms: D002874:Chromosome Mapping; D002877:Chromosomes, Human; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D002888:Chromosomes, Human, Pair 19; D002889:Chromosomes, Human, Pair 2; D002890:Chromosomes, Human, Pair 20; D002891:Chromosomes, Human, Pair 21; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D003198:Computer Simulation; D005819:Genetic Markers; D015894:Genome, Human; D006801:Humans; D008126:Lod Score; D008957:Models, Genetic; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D005819:Genetic Markers; D000091346:Tripeptidyl-Peptidase 1; C000717267:TPP1 protein, human