Bibliothek

X
feed icon rss

Ihre E-Mail wurde erfolgreich gesendet. Bitte prüfen Sie Ihren Maileingang.

Leider ist ein Fehler beim E-Mail-Versand aufgetreten. Bitte versuchen Sie es erneut.

Vorgang fortführen?

Exportieren
Filter
Datenquelle
Materialart
Erscheinungszeitraum
  • 1
    Digitale Medien
    Digitale Medien
    A hemizygous A to CC base change of theCHM gene causing choroideremia associated with pinealoma (1997)
    Springer
    Graefe's archive for clinical and experimental ophthalmology 235 (1997), S. 653-655 
    Details
    ISSN: 1435-702X
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract • Background: Although mutations of theCHM gene have been reported in the Caucasian patients with choroideremia, there have been no such reports in nonCaucasian patients. We analyzed theCHM gene in a Japanese patient with choroideremia associated with pinealoma. • Methods: The method for screening was a nonradioisotopic modification of single-strand conformation polymorphism (SSCP) analysis. The PCR products from the patient and the carrier were screened and directly sequenced using an automated DNA sequencer. The PCR product of the carrier was also subcloned into a vector and the subcloned products were sequenced. •Results: SSCP analysis showed an identical abnormal band shift in the patient and the carrier. Direct sequence analysis showed a hemizygous A to CC mutation at nucleotide 1608 of theCHM gene in the patient, suspected to result in the absence or truncation of the predicted CHM protein. The sequence using both the PCR product and the subcloned DNA of the carrier showed both wild-type and mutant bands indicating a heterozygote. • Conclusion: The hemizygous mutation was detected in a patient and the heterozygous pattern in his mother, the carrier, suggesting that this mutation caused the disease.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00946942
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
    BibTip Andere fanden auch interessant ...
    Artikel (Nationallizenzen)
    Volltext
  • 2
    Digitale Medien
    Digitale Medien
    Homozygosity mapping of the locus responsible for renal tubular dysplasia of cattle on bovine Chromosome 1 (2000)
    Springer
    Mammalian genome 11 (2000), S. 316-319 
    Details
    ISSN: 1432-1777
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract. Renal tubular dysplasia is a hereditary disease of Japanese black cattle showing renal failure and growth retardation with an autosomal recessive trait. In the present study, we mapped the locus responsible for the disease (RTD) by linkage analysis with an inbred paternal half-sib pedigree obtained from commercial herds. By analyzing segregation of microsatellite markers in the half-sibs, significant linkage was observed between the RTD locus and markers on bovine Chromosome (Chr) 1 with the highest lod score of 11.4. Homozygosity mapping with the inbred pedigree further defined the localization of the RTD locus in a 4-cM region between microsatellite markers BMS4003 and INRA119. Mapping of the RTD locus on bovine Chr 1 will facilitate cloning and characterization of the gene responsible for this disease.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s003350010058
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
    BibTip Andere fanden auch interessant ...
    Artikel (Nationallizenzen)
    Volltext
Schließen ⊗
Diese Webseite nutzt Cookies und das Analyse-Tool Matomo. Weitere Informationen finden Sie hier...