Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses.
Infantile neuronal ceroid-lipofuscinosis (CLN1) is the form of neuronal ceroid-lipofuscinoses (NCL) with the earliest onset of symptoms. The locus of the most common form of these disorders, juvenile NCL (CLN3), has been mapped to chromosome 16. We report here linkage data of the same region in Finnish CLN1 families. Our results indicate that CLN1 is not allelic with CLN3 but represents a different locus, which is not located within about 70 cM in chromosome 16.
Jokiaho
I
I
Laboratory of Molecular Genetics, National Public Health Institute, Helsinki, Finland.
Puhakka
L
L
Santavuori
P
P
Manninen
T
T
Nyman
K
K
Peltonen
L
L
D000483:Alleles; D002648:Child; D002874:Chromosome Mapping; D005387:Finland / Q000453:epidemiology; D006801:Humans; D008126:Lod Score; D009472:Neuronal Ceroid-Lipofuscinoses / Q000145:classification / Q000453:epidemiology / Q000235:genetics*