title: Linkage map of the chromosomal region surrounding the infantile neuronal ceroid lipofuscinosis on 1p.
abstract: The neuronal ceroid lipofuscinoses (NCLs) of childhood are divided into 3 main types according to age-of-onset, clinical course, and neurophysiological and neuropathological findings: infantile, late infantile, and juvenile. All forms are inherited as an autosomal recessive trait, and their biochemical background is still unknown. The infantile type (INCL) with the earliest age-of-onset and the most severe clinical course, occurs in Finland with an incidence of 1:20,000, i.e., 116 patients have been found in our country up to now, whereas only about 50 cases have been reported from other parts of the world. Earlier we reported the linkage of INCL to the short arm of chromosome 1. Here we describe a more precise linkage map of this area. Our current map places the INCL mutation between D1S57 and D1S79; D1S7 has so far shown no recombination events between the marker and the disease (lod score 4.55 at theta = 0.00). Our material includes 64% of all living patients in Finland, and no linkage disequilibrium of haplotypes is seen, using the 2 physically close markers D1S57 and D1S79. This finding as well as our LINKMAP analyses suggest that the distance between the disease locus and the flanking markers is about 3-4 cm.
authors.affiliation: Laboratory of Molecular Genetics, National Public Health Institute, Helsinki, Finland.
authors.forename: I
authors.initials: I
authors.lastname: Järvelä
authors.forename: P
authors.initials: P
authors.lastname: Santavuori
authors.forename: L
authors.initials: L
authors.lastname: Puhakka
authors.forename: M
authors.initials: M
authors.lastname: Haltia
authors.forename: L
authors.initials: L
authors.lastname: Peltonen
mesh_terms: D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007223:Infant; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*
chemical_list: D005819:Genetic Markers