Physical map of the region containing the gene for Batten disease (CLN3).
Am J Med Genet
; 57(2): 316-9, 1995 Jun 05.
Article
en En
| MEDLINE
| ID: mdl-7668354
ABSTRACT
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 for four microsatellite markers in this interval, D16S288, D16S299, D16S298, and SPN, has shown significant allelic association between one allele at each of these loci and CLN3. All four of the associated markers were used as nucleation sites in the isolation of genomic clones (YACs). A contig was assembled which contains 3 of the 4 associated markers and which confirmed the relative order of these markers. Marker D16S272 has been located on the physical map between D16S288 and D16S299. Restriction mapping has demonstrated the location of possible CpG islands. One gene, STP, has been localised on the YAC contig proximal to D16S298 and is therefore a candidate for CLN3. Other genes, including IL4R, SGLT2, and UQCRC2, have been excluded from this region.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 16
/
Lipofuscinosis Ceroideas Neuronales
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Año:
1995
Tipo del documento:
Article
País de afiliación:
Reino Unido