Genome-wide search for CLN2, the gene causing late-infantile neuronal ceroid-lipofuscinosis (LNCL)
Journal Article
·
· American Journal of Medical Genetics
- Massachusetts General Hospital, Charlestown, MA (United States); and others
The loci for 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 possible 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. 14 refs., 3 tabs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 105198
- Report Number(s):
- CONF-9405333---; CNN: Grant NS24279; Grant NS32099
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 2 Vol. 57; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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A genome-side search for CLN2, the gene causing late-infantile neuronal ceroid lipofuscinosis
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Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:134700
A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of batten (Spielmeyer-Vogt-Sjoegren, CLN3) disease: Exclusion of linkage to the CLN3 region of chromosome 16
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Mon Mar 14 23:00:00 EST 1994
· Genomics; (United States)
·
OSTI ID:6822515
Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): Evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes
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Fri Oct 01 00:00:00 EDT 1993
· American Journal of Human Genetics; (United States)
·
OSTI ID:5136015