Microdeletion in a Moroccan patient with juvenile neuronal ceroid lipofuscinosis (Batten disease) may affect the CLN3 gene
- Leiden Univ. (Netherlands); and others
CLN3 has been localized genetically to 16p12 and shows a strong association with microsatellite markers D16S298, D16S299, and D16S288. Recently, haplotype analysis of a Batten patient from a consanguineous, relationship with these markers indicated homozygosity for the D16S298 null allele. Null alleles for polymorphic microsatellite markers have been observed to arise from small deletions within one of the priming sequences. PCR analysis with different primers and Southern blot analysis using DNA from the patient and his family indicate a deletion of at least 160 bp. A cosmid contig containing D16S298 has been constructed. Cosmid NL 11A spans the deletion, which is located within a 25 kb EcoRI fragment. The isolation of cDNA clones from this region could lead to the identification of the CLN3 gene.
- OSTI ID:
- 133394
- Report Number(s):
- CONF-941009--; CNN: Grant NS30152
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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