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  • 2000-2004  (1)
  • 1990-1994  (1)
  • 1960-1964
  • 1955-1959
  • Anosmia  (1)
  • Bloodstains  (1)
  • 1
    ISSN: 1437-1596
    Keywords: Polymorphism FXIIIB ; Population genetics ; Bloodstains ; Polymorphismus FXIIIB ; Populationsgenetik ; Blutspuren
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Der Polymorphismus des FXIIIB wurde bei 555 unverwandten Japanern mit Hilfe der isoelektrischen Fokussierung und anschließendem Immunoblotting untersucht. Fünf allgemein vorkommende Phänotypen und die seltene Variante FXIIIB 15-3 wurden beobachtet. Die Allel-Frequenzen waren FXIIIB = 0,3063, FXIIIB2 = 0,0162, FXIIIB3 = 0,6766 und FXIIIB15 = 0,0009. Die Bestimmung der Phänotypen war auch an Blutspuren mit folgenden Lagerungsbedingungen möglich: Bei 37°C über einen Zeitraum bis zu 4 Monate, bei Raumtemperatur und bei 4°C länger als 6 Monate. Das FXIIIB-System kann einen neuen, aussagekräftigen genetischen Marker für gerichtsmedizinische Blutspurenuntersuchungen darstellen.
    Notes: Summary The polymorphism of FXIIIB was investigated in 555 unrelated Japanese individuals using isoelectric focusing and immunoblotting. Five common phenotypes and a rare variant type FXIIIB 15-3 were observed. The allele frequencies were FXIIIB*1 = 0.3063, FXIIIB*2 = 0.0162, FXIIIB*3 = 0.6766 and FXIIIB*15 = 0.0009. Phenotyping was also possible from bloodstains stored at 37°C for up to 4 months and from bloodstains stored at room temperature and at 4°C for over 6 months. The FXIIIB system can provide a new powerful genetic marker for the medicolegal grouping of bloodstains.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1435-232X
    Keywords: Key words Kallmann syndrome ; KAL1 ; Mutation ; Anosmia ; Hypogonadism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We identified a novel interstitial deletion that spanned from exons 5 to 10 of KAL1 in two Japanese brothers with X-linked Kallmann syndrome (KS; MIM no. 308700). Both brothers had hypogonadism, unilateral renal agenesis, and disturbance of the sense of smell, but they had no other neurological manifestations, including mental disturbance. Their mother was confirmed to be an asymptomatic carrier, by use of a comparative multiplex polymerase chain reaction (PCR) analysis. The present patients are further examples of patients with KS without mental disturbance caused by a mutation confined to KAL1.
    Type of Medium: Electronic Resource
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