Literature DB >> 1746562

Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12.

D F Callen1, E Baker, S Lane, J Nancarrow, A Thompson, S A Whitmore, D H MacLennan, R Berger, D Cherif, I Järvelä.   

Abstract

The gene for Batten disease (CLN3) has been mapped to human chromosome 16 by demonstration of linkage to the haptoglobin locus, and its localization has been further refined using a panel of DNA markers. The aim of this work was to refine the genetic and physical mapping of this disease locus. Genetic linkage analysis was carried out in a larger group of families by using markers for five linked loci. Multipoint analysis indicated a most likely location for CLN3 in the interval between D16S67 and D16S148 (Z = 12.5). Physical mapping of linked markers was carried out using somatic cell hybrid analysis and in situ hybridization. A mouse/human hybrid cell panel containing various segments of chromosome 16 has been constructed. The relative order and physical location of breakpoints in the proximal portion of 16p were determined. Physical mapping in this panel of the markers for the loci flanking CLN3 positioned them to the bands 16p12.1----16p12.3. Fluorescent in situ hybridization of metaphase chromosomes by using these markers positioned them to the region 16p11.2-16p12.1. These results localize CLN3 to an interval of about 2 cM in the region 16p12.

Entities:  

Mesh：

Year:  1991        PMID： 1746562      PMCID： PMC1702406     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  14 in total

1.  Genetic linkage map of 46 DNA markers on human chromosome 16.

Authors:  T P Keith; P Green; S T Reeders; V A Brown; P Phipps; A Bricker; K Falls; K S Rediker; J A Powers; C Hogan
Journal:  Proc Natl Acad Sci U S A       Date:  1990-08       Impact factor: 11.205

2.  Mapping the short arm of human chromosome 16.

Authors:  D F Callen; V J Hyland; E G Baker; A Fratini; A K Gedeon; J C Mulley; K E Fernandez; M H Breuning; G R Sutherland
Journal:  Genomics       Date:  1989-04       Impact factor: 5.736

3.  Anonymous DNA probes to human chromosome 16 derived from a flow-purified library.

Authors:  V J Hyland; S Grist; D F Callen; G R Sutherland
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025

4.  Fine mapping of gene probes and anonymous DNA fragments to the long arm of chromosome 16.

Authors:  D F Callen; V J Hyland; E G Baker; A Fratini; R N Simmers; J C Mulley; G R Sutherland
Journal:  Genomics       Date:  1988-02       Impact factor: 5.736

5.  Removal of repeated sequences from hybridisation probes.

Authors:  P G Sealey; P A Whittaker; E M Southern
Journal:  Nucleic Acids Res       Date:  1985-03-25       Impact factor: 16.971

6.  Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16.

Authors:  M Gardiner; A Sandford; M Deadman; J Poulton; W Cookson; S Reeders; I Jokiaho; L Peltonen; H Eiberg; C Julier
Journal:  Genomics       Date:  1990-10       Impact factor: 5.736

7.  Batten disease (Spielmeyer-Sjøgren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16.

Authors:  H Eiberg; R M Gardiner; J Mohr
Journal:  Clin Genet       Date:  1989-10       Impact factor: 4.438

8.  Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025

9.  Distamycin A-inducible fragile sites and cancer proneness.

Authors:  T Hori; E Takahashi; T Ishihara; M Minamihisamatsu; Y Kaneko; M Murata
Journal:  Cancer Genet Cytogenet       Date:  1988-09

10.  Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization.

Authors:  D Pinkel; T Straume; J W Gray
Journal:  Proc Natl Acad Sci U S A       Date:  1986-05       Impact factor: 11.205
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  12 in total

Review 1.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

2.  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

3.  Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis (CLN2) using markers on chromosome 16p.

Authors:  R Williams; H Mitchison; T Mckay; I Järvelä; R M Gardiner
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

4.  Refined genetic mapping of juvenile-onset neuronal ceroid-lipofuscinosis on chromosome 16.

Authors:  H M Mitchison; R E Williams; T R McKay; D F Callen; A D Thompson; J C Mulley; R L Stallings; C E Hildebrand; R K Moyzis; I Järvelä
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

5.  Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.

Authors:  P Szepetowski; J Rochette; P Berquin; C Piussan; G M Lathrop; A P Monaco
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

6.  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

7.  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

8.  MRI of neuronal ceroid lipofuscinosis. I. Cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis.

Authors:  T Autti; R Raininko; S L Vanhanen; P Santavuori
Journal:  Neuroradiology       Date:  1996-07       Impact factor: 2.804

9.  Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16.

Authors:  W Yan; R M Boustany; C Konradi; L Ozelius; T Lerner; J A Trofatter; C Julier; X O Breakefield; J F Gusella; J L Haines
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

Review 10.  Genetic analysis of Batten disease.

Authors:  R M Gardiner
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
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