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  • Keywords Cleft lip and palate  (1)
  • Keywords: spinocerebellar ataxia, SCA2, trinucleotide repeat expansion, octogenarians, repeat instability  (1)
  • Mikroformen  (1)
  • Schlüsselwörter LK(G)-Spalte  (1)
  • Temperature gradient gel electrophoresis  (1)
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Keywords
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  • 1
    ISSN: 0173-0835
    Keywords: Temperature gradient gel electrophoresis ; Denaturing gradient gel electrophoresis ; Neurofibromatosis gene ; Mutation analysis ; Exon skipping ; Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: We screened a total of 100 unrelated patients with neurofibromatosis type 1 (NF1) for mutations in exons 5 and 8 of the NF1 gene using temperature gradient gel electrophoresis (TGGE). Careful interpretation of exon 5 TGGE patterns was necessary due to interference by an exonic polymorphism. Three novel mutations were identified: a stop mutation in exon 5 (Q239X) caused by a C→T transition at cDNA nucleotide position 715, a transition at the invariant G of the splice accceptor site in intron 4c (G655-1A), and a transversion at the invariant G of the splice donor site in intron 8 (G1185+1T). Analysis of mRNA revealed the predicted abnormal splice products. While skipping of exon 5 causes a shift in the reading frame with a premature stop codon downstream in the middle of exon 6, skipping of exon 8 leads to an in-frame deletion with the predicted protein product being shortened by 41 amino acids.
    Additional Material: 3 Ill.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1364-6753
    Keywords: Keywords: spinocerebellar ataxia, SCA2, trinucleotide repeat expansion, octogenarians, repeat instability
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ABSTRACT Autosomal dominant spinocerebellar ataxias (SCA) are a group of clinically and genetically heterogeneous neurodegenerative disorders which lead to progressive cerebellar ataxia. A gene responsible for SCA type 2 has been mapped to human chromosome 12 and the disease causing mutation has been identified as an unstable and expanded (CAG)n trinucleotide repeat. We investigated the (CAG)n repeat length of the SCA2 gene in 842 patients with sporadic ataxia and in 96 German families with dominantly inherited SCA which do not harbor the SCA1 or MJD1/SCA3 mutation, respectively. The SCA2 (CAG)n expansion was identified in 71 patients from 54 families. The (CAG)n stretch of the affected allele varied between 36 and 64 trinucleotide units. Significant repeat expansions occurred most commonly during paternal transmission. Analysis of the (CAG)n repeat lengths with the age of onset in 41 patients revealed an inverse correlation. Two hundred and forty-one apparently healthy octogenerians carried alleles between 16 and 31 repeats. One 50-year old, healthy individual had 34 repeats; she had transmitted an expanded allele to her child. The small difference between ‘normal’ and disease alleles makes it necessary to define the extreme values of their ranges. With one exception, the trinucleotide expansion was not observed in 842 ataxia patients without a family history of the disease. The SCA2 mutation causes the disease in nearly 14% of autosomal dominant SCA in Germany.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1434-3940
    Keywords: Schlüsselwörter LK(G)-Spalte ; Unterlippenfisteln ; Mikroformen ; Wiederholungsrisiko ; Keywords Cleft lip and palate ; Lip pits ; Microforms of lip pits ; Recurrence risk
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Eight families with the combination of cleft lip and/or cleft palate plus lower lip pits including their microforms were examined with the aim of characterization of microsymptoms. Hypodontia as a further symptom was also taken into consideration. Each of the symptoms was also noted separately in relatives of the patients and are to be considered as a genetic equivalent of the complete form of the autosomal-dominant inherited Van der Woude’s syndrome. Knowledge of the variable expression of the basic gene is crucial for risk assessment in family counselling and also for distinguishing from clefts of other genesis with lower recurrence risk.
    Notes: Mit dem Ziel der Charakterisierung von Mikrosymptomen wurden die Familien von 8 Patienten mit der Kombination von Lippen-Kiefer- und/oder Gaumenspalten und Unterlippenfisteln, einschließlich der jeweiligen Mikroformen, untersucht. Berücksichtigung fand auch die Hypodontie als weiteres Merkmal. Jedes dieser Symptome war bei Verwandten der Patienten auch isoliert zu beobachten und ist als genetisches Äquivalent des kompletten Van-der-Woude-Syndroms im Sinne eines autosomal-dominanten Erbgangs anzusehen. Die Kenntnis der variablen Expressivität beim Van-der-Woude-Syndrom ist für die Risikoeinschätzung in der genetischen Beratung und für die Abgrenzung von Spaltbildungen anderer Genese und geringem Wiederholungsrisiko von Bedeutung.
    Type of Medium: Electronic Resource
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