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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The linkage relationships between the cystic fibrosis (CF) locus and four marker loci (MET-H, MET-D, D7S8 and D7S16), allelic associations between these loci and the extent of informativity at these marker loci were investigated in a sample of 206 families with at least one child affected by CF. The data were contributed by 11 laboratories from Europe and Israel. The maximum lod scores and recombination frequency estimates ( $$\hat \theta $$ ) (and confidence limits of θ) were: 18.3 at $$\hat \theta $$ =0.007(0.001−0.038) for CF vs. MET, 11.0 at $$\hat \theta $$ (0.001–0.068) for CF vs. D7S8, and 5.7 at $$\hat \theta $$ =0.0(0.0−0.064) for CF vs. D7S16. A gene order of CF-MET-D7S8 was best supported by the data, but its preference to the order D7S8-CF-MET is mainly based on one single family. There are significant allelic associations between CF, MET, D7S8 and D7S16; these allelic associations affect the risk of random individuals to be carriers of CF.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Charcot-Marie-Tooth disease 1A ; Duplication on chromosome 17p11.2 ; Variable clinical phenotype
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Charcot-Marie-Tooth disease (CMT) was diagnosed by nerve conduction velocity and histology of the sural nerve in two boys aged 3 and 6 years with clinical signs of a severe neuromuscular disease. DNA analysis revealed the typical duplication on chromosome 17p 11.2 (2.7 kb allele) for CMT 1A. Although none of their family members reported symptoms of neuromuscular disease, the nerve conduction velocity was reduced in three members (father and two aunts). They were homozygous for the 2.7 kb allele and were assumed to carry three copies of this allele. The very differing clinical picture from one generation to the next in patients with identical neurophysiological and genetic results is discussed.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Prader-Willi-Syndrom ; Angelman-Syndrom ; Methylierungsspezifische Polymerasekettenreaktion (M-PCR) ; Genomic imprinting ; Keywords Prader-Willi syndrome ; Angelman syndrome ; Methylation-specific polymerase chain reaction (M-PCR) ; Genomic imprinting
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Background. The methylation-specific polymerase chain reaction (M-PCR) is a new method for investigating patients with Prader-Willi and Angelman syndrome. This paper reports a modification of the M-PCR method to replace the conventional gel electrophoresis by automatic high voltage capillary electrophoresis resulting in increased sensitivity and simplified handling. Method and patients: We investigated blood samples of 31 patients with clinical features of Prader-Willi syndrome, 20 patients with clinical features of Angelman syndrome and 25 control individuals. 5 samples of Prader-Willi patients and 11 samples of Angelman patients had previously been analysed by the conventional Southern blot technique. Results. The clinical diagnosis was confirmed in 3 of 31 Prader-Willi patients (9,68%) and in 8 of 20 Angelman patients (40%). The 25 control individuals all showed normal results. The data obtained by M-PCR and Southern blot analysis showed 100% concordance. Conclusions. The modified M-PCR method improves rapidity, reliability and profitability and is very valuable for the investigation of children with clinical suspicion of Prader-Willi or Angelman syndrome.
    Notes: Zusammenfassung Hintergrund. Die methylierungsspezifische Polymerasekettenreaktion (M-PCR) ist eine neue Labormethode zur Diagnose des Prader-Willi- und des Angelman-Syndroms. Im vorgestellten Verfahren wurde die konventionelle Gelelektrophorese durch eine automatisierte Hochspannungskapillarelektrophorese ersetzt, mit dem Ziel die Sensitivität zu erhöhen und die Handhabung der M-PCR zu vereinfachen. Methode und Patienten. Es wurden 31 Blutproben von Patienten mit dem klinischen Verdacht auf ein Prader-Willi-Syndrom, 20 Blutproben von Patienten mit dem Verdacht auf ein Angelman-Syndrom sowie 25 Blutproben von Kontrollpersonen mit der M-PCR untersucht. Bereits früher waren 5 Proben von Prader-Willi- und 11 Proben von Angelman-Patienten mir der herkömmlichen Southern-Blot-Technik analysiert worden. Ergebnisse. Bei 3 der 31 Blutproben von Patienten mit Verdacht auf ein Prader-Willi-Syndrom (9,68%) und bei 8 der 20 Blutproben von Patienten mit Verdacht auf ein Angelman-Syndrom (40%) konnte die klinische Diagnose bestätigt werden. Die 25 Kontrollpersonen zeigten in allen Fällen ein normales Resultat. Die früher mit der Southern-Blot-Technik erzielten Resultate ließen sich durchweg bestätigen. Schlussfolgerung. Dank der Schnelligkeit, Zuverlässigkeit und Wirtschaftlichkeit hat sich die vorgestellte M-PCR-Methode zur routinemäßigen Abklärung von Kindern mit klinischem Verdacht auf das Vorliegen eines Prader-Willi- oder Angelman-Syndroms bewährt.
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