Toward the identification of the gene for Batten disease (CLN3) in 16p12 by physical mapping and analysis of candidate genes
- UCL Medical School, London (United Kingdom); and others
CLN3 has been mapped genetically to 16p12, to the interval between D16S288 and D16S383, a sex-averaged genetic distance of 2.1 cM. Analysis of disease haplotypes from 134 families and four microsatellite markers in this interval, D16S288, D16S299, D16S298 and SPN, revealed significant allelic association between one allele at each of these loci and CLN3. All four of the associated markers have been used as nucleation sites in the isolation of genomic clones (YACs). A contig of approximately 860 Kb was assembled which contained three of the four associated markers and which confirmed the relative order of these markers. The distance between D16S288 and D16S299 is 430 Kb; that between D16S299 and D16S298 is less than 200 Kb. Marker D16S272 has been located on the physical map between D16S288 and D16S299. The YAC contig has now been extended towards the fourth associated marker. A detailed restriction map has revealed the location of possible CpG islands. Four cosmid contigs have been localized onto the physical map. Two genes, STP and STPM, have been mapped on the YAC contig proximal to D16S298 and are therefore candidates for CLN3. Sequence analysis of the coding region of these genes so far reveals no mutations.
- OSTI ID:
- 134448
- Report Number(s):
- CONF-941009--
- 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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