Literature DB >> 8198127

The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.

L Haataja1, J Schleutker, A P Laine, M Renlund, M L Savontaus, C Dib, J Weissenbach, L Peltonen, P Aula.   

Abstract

Salla disease (SD), or adult-type free sialic acid storage disease, is an autosomal recessive lysosomal storage disorder characterized by impaired transport of free sialic acid across the lysosomal membrane and severe psychomotor retardation. Random linkage analysis of a sample of 27 Finnish families allowed us to localize the SD locus to the long arm of chromosome 6. The highest lod score of 8.95 was obtained with a microsatellite marker of locus D6S286 at theta = .00. Evidence for linkage disequilibrium was observed between the SD locus and the alleles of three closely linked markers, suggesting that the length of the critical region for the SD locus is in the order of 190 kb.

Entities:  

Mesh：

Substances：

Year:  1994        PMID： 8198127      PMCID： PMC1918202     

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


  31 in total

1.  A second-generation linkage map of the human genome.

Authors:  J Weissenbach; G Gyapay; C Dib; A Vignal; J Morissette; P Millasseau; G Vaysseix; M Lathrop
Journal:  Nature       Date:  1992-10-29       Impact factor: 49.962

2.  Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus.

Authors:  I Järvelä
Journal:  Genomics       Date:  1991-06       Impact factor: 5.736

3.  Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease.

Authors:  J Schleutker; L Haataja; M Renlund; L Puhakka; J Viitala; L Peltonen; P Aula
Journal:  Hum Genet       Date:  1991-11       Impact factor: 4.132

4.  Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.

Authors:  J Hästbacka; R Salonen; P Laurila; A de la Chapelle; I Kaitila
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

5.  Functional reconstitution of the lysosomal sialic acid carrier into proteoliposomes.

Authors:  G M Mancini; C E Beerens; H Galjaard; F W Verheijen
Journal:  Proc Natl Acad Sci U S A       Date:  1992-07-15       Impact factor: 11.205

6.  Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis.

Authors:  E Hellsten; J Vesa; M C Speer; T P Mäkelä; I Järvelä; K Alitalo; J Ott; L Peltonen
Journal:  Genomics       Date:  1993-06       Impact factor: 5.736

7.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

8.  A single PCR marker in strong allelic association with the infantile form of neuronal ceroid lipofuscinosis facilitates reliable prenatal diagnostics and disease carrier identification.

Authors:  J Vesa; E Hellsten; T P Mäkelä; I Järvelä; T Airaksinen; P Santavuori; L Peltonen
Journal:  Eur J Hum Genet       Date:  1993       Impact factor: 4.246

9.  Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues.

Authors:  L W Hancock; M M Thaler; A L Horwitz; G Dawson
Journal:  J Neurochem       Date:  1982-03       Impact factor: 5.372

Review 10.  Sialic acid storage disorders: observations on clinical and biochemical variation.

Authors:  G M Mancini; F W Verheijen; C E Beerens; M Renlund; P Aula
Journal:  Dev Neurosci       Date:  1991       Impact factor: 2.984
View more
  9 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.  Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.

Authors:  Cecilia Parazzini; Saverio Arena; Lucrezia Marchetti; Francesca Menni; Mirella Filocamo; Frans W Verheijen; Grazia M S Mancini; Fabio Triulzi; Rossella Parini
Journal:  AJNR Am J Neuroradiol       Date:  2003-03       Impact factor: 3.825

3.  Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.

Authors:  A de la Chapelle; F A Wright
Journal:  Proc Natl Acad Sci U S A       Date:  1998-10-13       Impact factor: 11.205

4.  Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246.

Authors:  E N Levy; Y Shen; A Kupelian; L Kruglyak; I Aksentijevich; E Pras; J E Balow; B Linzer; X Chen; D A Shelton; D Gumucio; M Pras; M Shohat; J I Rotter; N Fischel-Ghodsian; R I Richards; D L Kastner
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

5.  Are moment bounds on the recombination fraction between a marker and a disease locus too good to be true? Allelic association mapping revisited for simple genetic diseases in the Finnish population.

Authors:  N L Kaplan; B S Weir
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025

Review 6.  Lysosomal transport disorders.

Authors:  G M Mancini; A C Havelaar; F W Verheijen
Journal:  J Inherit Metab Dis       Date:  2000-05       Impact factor: 4.982

7.  Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.

Authors:  J Schleutker; P Sistonen; P Aula
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

8.  Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.

Authors:  J Schleutker; P Leppänen; J E Månsson; A Erikson; J Weissenbach; L Peltonen; P Aula
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

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
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.