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  • 1
    Electronic Resource
    Electronic Resource
    Microsatellite polymorphisms reveal phylogenetic relationships in primates (1995)
    Springer
    Journal of molecular evolution 41 (1995), S. 10-14 
    Details
    ISSN: 1432-1432
    Keywords: Microsatellite ; DNA polymorphism ; Primate phylogeny ; DNA sequencing
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract We amplified, via PCR, DNA segments from intron 1 of the tyrosine hydroxylase gene (TH01) and intron 40 of the von Willebrand factor gene (VWA) in ten nonhuman primate genera. In humans both introns contain polymorphic microsatellites with tetrameric repeats. Compared to the allelic ranges in human populations relatively short repeat arrays could be detected for the nonhuman primates typed, presumably reflecting an ancient precursor state at both microsatellite loci. Furthermore, our results provide evidence for an association of the average number of repeats present in different primate genera and their divergence time from man. DNA sequencing of VWA orthologues revealed a relatively high variability in the arrangement of repeats in the 5′-repeat arrays, the generation of which could probably be explained by polar mutational events.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00174036
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  • 2
    Electronic Resource
    Electronic Resource
    Detection and significance of adenoviruses in cases of sudden infant death (1996)
    Springer
    Virchows Archiv 428 (1996), S. 113-118 
    Details
    ISSN: 1432-2307
    Keywords: Sudden infant death syndrome ; Interstitial pneumonia ; Adenovirus detection ; Nested PCR
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Respiratory tract infections have been thought to act as a trigger mechanism in sudden infant death. In 118 autopsy cases of infant death, paraffin-embedded or frozen lung tissues were investigated by means of a nested polymerase chain reaction (PCR) to detect adenovirus (AV) DNA. The primers used are general primers and allow the detection of most pathogenic adenoviruses with high specificity and sensitivity and independently of devitalization of viruses or degradation of viral DNA. For the investigation three groups were established: there were 13 cases of unnatural death, 78 cases of natural death without histological signs of interstitial pneumonia, and 27 cases with interstitial pneumonia. The first group was AV negative. In the group without interstitial pneumonia AV was detected in 10.2% of the cases. In the group with interstitial pneumonia the frequency of AV detection was almost 26%. The results obtained demonstrate an association between interstitial pneumonia and detection of AV DNA, indicating that AV may play an important part in pulmonary infection in infants. Histological evidence of interstitial pneumonia was not observed in all AV-positive cases, perhaps because nonspecific virus-related changes occurred only in early stages of viral infection. Comparison of the AV frequency in SIDS (15%) and non-SIDS cases (4%) indicates an association between pulmonary AV infections and sudden death. These results support the working hypothesis of respiratory infections acting as a trigger mechanism in sudden infant death.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00193939
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  • 3
    Electronic Resource
    Electronic Resource
    DNA-Degradation in formalinfixierten Geweben (1996)
    Springer
    Der Pathologe 17 (1996), S. 451-454 
    Details
    ISSN: 1432-1963
    Keywords: Schlüsselwörter Formalinfixierung ; DNA-Degradation ; PCR-Typisierung ; Key words Formalin fixation ; DNA degradation ; PCR typing
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The intensity of DNA degradation in fixed tissues is dependent on the fixation solution and the fixation time. The aim of this study was the investigation of DNA degradation over fixation times of up to 70 days in different tissues (muscle, brain, liver, bone) and with different formalin concentration (2 %, 4 %, 8 %; unbuffered). An additional test was performed to see whether the fixed tissues could be individualized using PCR analysis. The smallest amounts of DNA were extracted from liver and brain and the largest from muscle and bone. The amount of DNA that could be extracted decreased with increasing formalin concentration, while at the same time DNA degradation increased. With the PCR-VNTR system HUMTH 01, all fixed samples could be typed regardless of the fixation time and the formalin concentration.
    Notes: Zusammenfassung Die DNA-Degradation in fixierten Geweben steht im Zusammenhang mit dem verwendeten Fixierungsmittel und der Fixierungsdauer. Die Zielsetzung dieser Studie bestand darin, die DNA-Degradation über einen Fixierungszeitraum bis zu 70 Tagen in verschiedenen Gewebearten (Muskulatur, Gehirn, Leber, Knochen) und Formalinkonzentrationen (2 %, 4 %, 8 %; ungepuffert) zu untersuchen. Zusätzlich wurde mittels PCR-Analytik überprüft, ob die fixierten Gewebeproben noch individualisierbar sind. Die geringsten DNA-Ausbeuten waren aus fixiertem Leber- und Gehirngewebe, die höchsten aus Muskel- und Knochengewebe extrahierbar, wobei die extrahierte DNA-Menge mit ansteigender Formalinkonzentration abnahm, bei gleichzeitiger Zunahme der DNA-Degradation. Mit dem PCR-VNTR-System HUMTH 01 konnten alle fixierten Proben unabhängig von der Fixierungsdauer und der Formalinkonzentration typisiert werden.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002920050185
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  • 4
    Electronic Resource
    Electronic Resource
    DNA-Untersuchung von Hautepithelzellen asserviert am Rollkragenpullover und am Hals des Opfers (1998)
    Springer
    Rechtsmedizin 8 (1998), S. 226-228 
    Details
    ISSN: 1434-5196
    Keywords: Key words STR typing ; Strangulation ; Epithelial cells ; Schlüsselwörter STR-Typisierung ; Erwürgen ; Epithelzellen
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Eine 34jährige, von ihrem Ehemann getrennt lebende Frau, wurde von ihrem Mann durch Erwürgen und durch mehrere Bruststiche getötet. Die Leichenschau erfolgte etwa fünf Stunden nach der Tat. Bereits am Fundort wurden durch den Rechtsmediziner zwei Abstriche (rechte und linke Halsseite) mit angefeuchteten Wattestieltupfern durchgeführt. Zusätzlich wurde ein Abstrich von der Kragenaußenseite des Rollkragenpullovers, den das Opfer trug, angefertigt. Es war nämlich auffällig, daß sich auf der Halshaut unterhalb des Kehlkopfes ein Gewebemuster markierte, das darauf hindeutete, daß sich textiles Gewebe während des Würgevorgangs zwischen Täterhänden und Opferhals befunden hat. Die DNA-Typisierung (Short tandem repeat-PCR) dieser Abstriche ergab sowohl für die Halsabstriche als auch für den Kragenabstrich eine Mischmusterkonstellation, die mit den genetischen Merkmalen von Täter und Opfer übereinstimmte.
    Notes: Abstract A 34-year-old woman who was separated from her husband, was killed by him by strangulation and several stab wounds in the chest. The post-mortem examination was carried out approximately 5 h after death. At the place of discovery one swab of her right and one of her left neck side were taken. Additionally, a swab was taken out from the front side of the collar of her polo-neck pullover. It was obvious that the skin of the neck below the larynx showed a fabric pattern leading to the assumption that the collar was temporarily pressed between the hands of the suspect and the neck of the victim. DNA typing (short tandem repeat-PCR) of these swabs led to the detection of mixed patterns for the swabs of the neck and the collar which matched the patterns of the victim and the suspect.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001940050066
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  • 5
    Electronic Resource
    Electronic Resource
    Population and family data of RFLP's using selected single- and multi-locus systems (1991)
    Springer
    International journal of legal medicine 104 (1991), S. 179-179 
    Details
    ISSN: 1437-1596
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01369726
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  • 6
    Electronic Resource
    Electronic Resource
    pMCT 118 (D1S80): a new allelic ladder and an improved electrophoretic separation lead to the demonstration of 28 alleles (1992)
    Springer
    International journal of legal medicine 105 (1992), S. 165-168 
    Details
    ISSN: 1437-1596
    Keywords: AMPFLP-system pMCT 118 ; Allelic ladder ; Comparison of population data ; AMPFLP-System pMCT 118 ; Allelfrequenzen ; Populationsvergleich
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Eine Populationsstudie an nordwestdeutschen Kaukasiern (n = 218) wurde mit dem AMPFLP-System pMCT 118 (D1S80) durchgeführt. Als Modifikation zu einer zuvor durchgeführten Populationsstudie (Rand et al. 1992) wurde die elektrophoretische Trennstrecke von 10 cm auf 20 cm verlängert und ein erweiterter Allelstandard verwendet, wodurch 8 weitere (insgesamt 28) Allele unterschieden werden konnten. Innerhalb der 16 by Repeat-Sequenz ließen sich 5 „Zwischenallele” diskriminieren. Die erhaltenen Allelfrequenzen wurden mit Allelfrequenzen amerikanischer Kaukasier, „hispanics” und schwarzen Nordamerikanern (Eisenberg und Maha 1991) verglichen. Abgesehen von den Populationsdaten schwarzer Nordamerikaner zeigte sich eine gute übereinstimmung im Frequenzprofil.
    Notes: Summary Population data studies carried out on caucasians from Northwest Germany (n = 218) using the AMPFLP system pMCT 118 (D1S80). The method used in a previous study (Rand et al. 1992) for pMCT 118 could be improved by increasing the electrophoretic separation length from 10 to 20 cm and by using an extended allelic ladder which allowed the distinction of 8 additional alleles (a total of 28 alleles). Out of the 8 additional alleles 5 could be differentiated which differed within the 16 by repeat sequence. The allele frequencies found were compared to population data from American caucasians, Hispanics and black Americans (Eisenberg and Maha 1991). All populations with the exception or black Americans, showed good agreement.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01625170
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  • 7
    Electronic Resource
    Electronic Resource
    Forensic validation of the STR systems SE 33 and TC 11 (1993)
    Springer
    International journal of legal medicine 105 (1993), S. 315-320 
    Details
    ISSN: 1437-1596
    Keywords: Short tandem repeats ; SE 33 ; TC 11 ; Forensic validation ; Population studies ; Short tandem repeats ; TC 11 ; SE 33 ; Forensische Validierung ; Populationsstudien
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Populationsstichproben nordwestdeutscher Kaukasier wurden mit den beiden Short tandem repeat (STR)-Systemen SE 33 (Locus: ACTBP2) and TC11 (Locus: 11p15.5) untersucht. Nach elektrophoretischer Auftrennung in PAG konnten 26 Allele für SE 33 in einer Bevölkerungsstichprobe von 180 nicht verwandten Personen und 6 Allele für TC 11 in einer Stichprobe von 110 Individuen differenziert werden. Der resultierende kombinierte AVACH-Wert für beide Systeme lag bei 0.96, der entsprechende Diskriminationsindex bei 0.999. Eine signifikante Abweichung vom Hardy-Weinberg-Gleichgewicht wurde nicht festgestellt. Erste Familienstudien (SE 33 −n = 21; TC 11 −n = 30) gaben keinen Hinweis auf Neumutation. Die Nachweissensitivität beider STR's lag im Bereich von 50 pg template DNA.
    Notes: Summary Population studies on Caucasians from northwest Germany were carried out using the short tandem repeat (STR) systems SE 33 (Locus: ACTBP2) and TC 11 (Locus: 11p15.5). After electrophoresis in PAG 26 alleles could be identified for SE 33 in a sample size of 180 unrelated individuals and 6 alleles were found for TC 11 in 110 individuals. The combined mean exclusion chance for both systems was 0.96 and the discrimination index 0.999. No significant deviations from Hardy-Weinberg equilibrium could be demonstrated. In a small sample of families (SE 33 −n = 21; TC 11 −n = 30) no new mutations could be found. Positive and reproducible results for both STRs could be obtained from 50 pg template DNA.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01222114
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  • 8
    Electronic Resource
    Electronic Resource
    Structure of new mutations in 2 STR systems (1995)
    Springer
    International journal of legal medicine 107 (1995), S. 201-203 
    Details
    ISSN: 1437-1596
    Keywords: Short tandem repeat (STR) systems ; HumACTBP2 ; HumVWA ; New mutations ; Sequencing ; Short Tandem Repeat (STR) Systeme ; HumACTBP2 ; HumVWA ; Neumutationen Sequenzierung
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Untersucht wurden isolierte Vater/ Kind-Ausschlüsse mit Short Tandem Repeat (STR)-Systemen in Paternitätsfällen mit sehr hoher Vaterschaftswahr-scheinlichkeit (W 〉 99.9%). Aufgrund der hohen Vaterschaftswahrscheinlichkeit war von Neumutationen auszugehen. Mit dem STR-System HumACTBP2 wurde eine Neumutation in 3 Paternitätsfällen beobachtet. In 2 Fällen wurde eine Deletion und in einem Fall eine Insertion um jeweils 1 Repeat (AAAG-Motiv) durch Sequenzierung nachgewiesen. Im HumVWA-System konnte in einem weiteren Paternitätsfall eine 1-Repeat-Insertion (TCTA-Motiv) durch Sequenzierung bestätigt werden. Die 3 beobachteten Neumutationsfälle ergaben für HumACTBP2 eine Mutationsrate von 0.7% (n = 453 Meiosen). Für Hum-VWA lag die Mutationsrate bei 0.2% (n = 484 Meiosen).
    Notes: Abstract Isolated father/child mismatches in cases with a high probability of paternity (W 〉 99.9%) have been investigated using short tandem repeat (STR) systems. According to the high probability of paternity new mutations could be assumed in these cases. A new mutation could be observed in 3 cases using the STR system HumACTBP2. Two of these cases showed a deletion and 1 case an insertion of 1 repeat (AAAG-motif) which could be verified by sequencing. In another paternity case a new mutation - 1 - repeat insertion (TCTA-motif) - in the HumVWA system was detected and verified by sequencing. These findings led to a new mutation rate of 0.7% (n = 453 meioses) for HumACTBP2 and 0.2% for HumVWA (n = 484 meioses).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01428406
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  • 9
    Electronic Resource
    Electronic Resource
    HumFES/FPS and HumF13B: Population genetic data from North Italy (1996)
    Springer
    International journal of legal medicine 108 (1996), S. 283-284 
    Details
    ISSN: 1437-1596
    Keywords: Short tandem repeats ; HumFES/FPS ; HumF1313 ; Population studies ; Northern Italy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Notes: Abstract DNA extracted from 119 unrelated individuals was analysed by the polymerase chain reaction at the polymorphic microsatellite loci HumFES/FPS (n = 115 individuals) and HumFl3B (n = 119 individuals). The samples were collected from Caucasians living in the area of Milano (northern Italy). After horizontal polyacrylamide electrophoresis, 8 alleles were observed for HumFES/FPS, and 5 for HumF13B. Testing for Hardy-Weinberg equilibrium showed no significant deviation. The allele frequency data were compared with a German and a Turkish population sample.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01369830
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  • 10
    Electronic Resource
    Electronic Resource
    D18S535, D1S1656 and D10S2325: three efficient short tandem repeats for forensic genetics (1999)
    Springer
    International journal of legal medicine 112 (1999), S. 360-363 
    Details
    ISSN: 1437-1596
    Keywords: Key words Short tandem repeats ; Population genetics ; Sequencing data
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Notes: Abstract Three short tandem repeat (STR) polymorphisms characterized by PCR product length 〈 175 bp were investigated. D18S535 and D1S1656 contained a 4 bp unit as basic repeat motif, D10S2325 a 5 bp unit. The heterozygosity rates were 0.76 (D18S535), 0.88 (D10S2325) and 0.90 (D1S1656), leading to a combined discrimination power of 0.9999. In contrast to D10S2325 and D18S535, which showed a homogeneous repeat array without any variation in the repeat motifs, repeat length and sequence variation was found for D1S1656. Robust typing results could be observed for all three STRs using highly degraded DNA.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00007705
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