Literature DB >> 8314582

Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci.

H M Mitchison1, A D Thompson, J C Mulley, H M Kozman, R I Richards, D F Callen, R L Stallings, N A Doggett, J Attwood, T R McKay.   

Abstract

Batten disease, juvenile onset neuronal ceroid lipofuscinosis, is an autosomal recessive neurodegenerative disorder characterized by accumulation of autofluorescent lipopigment in neurons and other cell types. The disease locus (CLN3) has previously been assigned to chromosome 16p. The genetic localization of CLN3 has been refined by analyzing 70 families using a high-resolution map of 15 marker loci encompassing the CLN3 region on 16p. Crossovers in three maternal meioses allowed localization of CLN3 to the interval between D16S297 and D16S57. Within that interval alleles at three highly polymorphic dinucleotide repeat loci (D16S288, D16S298, D16S299) were found to be in strong linkage disequilibrium with CLN3. Analysis of haplotypes suggests that a majority of CLN3 chromosomes have arisen from a single founder mutation.

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Year:  1993        PMID： 8314582     DOI： 10.1006/geno.1993.1210

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  11 in total

1.  Spectrum of mutations in the Batten disease gene, CLN3.

Authors:  P B Munroe; H M Mitchison; A M O'Rawe; J W Anderson; R M Boustany; T J Lerner; P E Taschner; N de Vos; M H Breuning; R M Gardiner; S E Mole
Journal:  Am J Hum Genet       Date:  1997-08       Impact factor: 11.025

2.  Detection of a HindIII restriction fragment length polymorphism in the human phenol sulfotransferase (STP) locus.

Authors:  R D Henkel; L V Galindo; T P Dooley
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

3.  Linkage disequilibrium and haplotype studies of chromosome 8p 11.1-21.1 markers and Werner syndrome.

Authors:  C E Yu; J Oshima; K A Goddard; T Miki; J Nakura; T Ogihara; M Poot; H Hoehn; M Fraccaro; C Piussan
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

Review 4.  New insight into lysosomal protein storage disease: delayed catabolism of ATP synthase subunit c in Batten disease.

Authors:  E Kominami; J Ezaki; L S Wolfe
Journal:  Neurochem Res       Date:  1995-11       Impact factor: 3.996

5.  Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1.

Authors:  T J Lerner; R M Boustany; K MacCormack; J Gleitsman; K Schlumpf; X O Breakefield; J F Gusella; J L Haines
Journal:  Am J Hum Genet       Date:  1994-01       Impact factor: 11.025

6.  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.

Authors:  R Williams; J Vesa; I Järvelä; T McKay; H Mitchison; E Hellsten; A Thompson; D Callen; G Sutherland; D Luna-Battadano
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

7.  Mitochondrial ATP synthase subunit c stored in hereditary ceroid-lipofuscinosis contains trimethyl-lysine.

Authors:  M L Katz; C L Gao; J A Tompkins; R T Bronson; D T Chin
Journal:  Biochem J       Date:  1995-09-15       Impact factor: 3.857

8.  Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses.

Authors:  S Gerber; S Odent; A Postel-Vinay; N Janin; J L Dufier; A Munnich; J Frezal; J Kaplan
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

9.  Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.

Authors:  H M Mitchison; A M O'Rawe; P E Taschner; L A Sandkuijl; P Santavuori; N de Vos; M H Breuning; S E Mole; R M Gardiner; I E Järvelä
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

10.  Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).

Authors:  P E Taschner; N de Vos; A D Thompson; D F Callen; N Doggett; S E Mole; T P Dooley; P G Barth; M H Breuning
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025
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