Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: Incorporation of linkage disequilibrium in multipoint analysis

Journal Article · Tue Jun 01 04:00:00 EDT 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1253· OSTI ID:7200398

Hellsten, E; Vesa, J; Peltonen, L; Jaervela, I ^[1]; Speer, M C; Ott, J ^[2]; Maekelae, T P; Alitalo, K ^[3]

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1. National Public Health Institute, Helsinki (Finland)
2. Columbia Univ., New York (United States) New York State Psychiatric Institute, New York (United States)
3. Univ. of Helsinki (Finland)

Infantile neuronal ceroid lipofuscinosis, INCL, CLN1, is an autosomally inherited progressive neuro-generative disorder. The disease results in the massive death of cortical neurons, suggesting an essential role for the CLN1 gene product in the normal neuronal maturation during the first years of life. Identification of new multiallelic markers has now made possible the construction of a refined genetic map encompassing the CLN1 locus at 1p32. Strong allelic association was detected with a new, highly polymorphic HY-TM1 marker. The authors incorporated this observed linkage disequilibrium into multipoint linkage analysis, which significantly increased the informativeness of the limited family material and facilitated refined assignment of the CLN1 locus. 23 refs., 2 figs., 4 tabs.

• OSTI ID: 7200398
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 16:3; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BIOLOGICAL MARKERS
BODY
BRAIN
CENTRAL NERVOUS SYSTEM
CEREBRAL CORTEX
CEREBRUM
CHROMOSOMES
DISEASES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 1
HUMAN CHROMOSOMES
MAPPING
NERVOUS SYSTEM
ORGANS