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  • 1
    Electronic Resource
    Electronic Resource
    A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families (1993)
    Springer
    Journal of human genetics 38 (1993), S. 193-201 
    Details
    ISSN: 1435-232X
    Keywords: Huntington disease ; linkage analysis ; D4S95 ; D4S115 ; D4S111
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Attempts to isolate the Huntington disease (HD) gene based on its position have been frustrated by apparently contradictory recombination events in HD pedigrees that have predicted two non-over-lapping candidate regions: 100 kb at the telomere of the short arm of chromosome 4, and a 2.2 Mb region located internally at 4p16.3. The proximal location is also supported by the detection of a linkage disequilibrium between HD and some restriction fragment length polymorphisms (RF-LPs) at the D4S95, D4S98, and D4S127 loci. In the present study, a proximal marker D4S95 showed tight linkage to the disease locus in Japanese pedigrees (Zmax=3.31,θ max=0.00), while distal markers D4S115 and D4S111 did not. Particularly, a two point linkage analysis between D4S111 and HD yielded a lod score −2.01 for θ=0.015. This result leads to the exclusion, as a possible region of localization of the HD gene, of more than 3 cM of the genome around D4S111 locus. At the same time our results favor aforementioned proximal location as a candidate location for the HD gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01883710
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  • 2
    Electronic Resource
    Electronic Resource
    Linkage study of dominantly inherited olivo-ponto-cerebellar atrophy (OPCA) and holmes' ataxia (1988)
    Springer
    Journal of human genetics 33 (1988), S. 423-438 
    Details
    ISSN: 1435-232X
    Keywords: spinocerebellar ataxia ; HLA ; linkage study ; Holmes' ataxia ; olivo-ponto-cerebellar atrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Both autosomal dominant olivo-ponto-cerebellar atrophy (OPCA) and Holmes' ataxia are the progressive neurodegenerative disorders of adulthood with unknown biochemical defects. In order to determine the genetic locus and possible genetic heterogeneity, linkage study was performed in 19 OPCA families comprising 180 individuals with 60 affected patients, and two Holmes' ataxia families comprising 39 individuals with 10 affected patients. By using computer program LIPED, linkage of each disorder was analyzed to 12 blood groups, 5 red cell enzymes, HLA-A, −B, −C, and F13A. No evidence suggesting linkage to these two disorders was obtained in the markers examined, including three 6p markers such as HLA, GLO1, and F13A. Furthermore, in 14 out of 15 HLA-informative OPCA families, negative lod scores for OPCA with HLA were obtained at most recombination fractions. Our results provide further evidence suggesting the genetic heterogeneity of dominant OPCA.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01897783
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