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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
    Electronic Resource
    Electronic Resource
    Weinheim : Wiley-Blackwell
    Electrophoresis 18 (1997), S. 1701-1705 
    ISSN: 0173-0835
    Keywords: DNA fingerprint ; Short tandem marker typing ; Paternity ; Differential reproduction ; Macaca mulatta ; Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: The fundamental framework for uncovering factors affecting the evolution of social behavior rests upon analyses of variation in reproductive success. In species where females mate with multiple males, paternity is invisible in the absence of genetic data. We determined paternity in two populations of rhesus macaques, Macaca mulatta, using both single locus and multilocus techniques. One troop, Group R, is one of four troops living on a 15 ha island (Cayo Santiago) off the coast of Puerto Rico, while the other troop, Group M, was translocated from Cayo Santiago to the Sabana Seca Field Station (Puerto Rico) in 1984. About a dozen human-derived short tandem repeat (STR) markers have been found to be polymorphic in the study of populations and provide the initial paternity determination. Final evaluation of paternity is then confirmed by multilocus DNA fingerprinting using synthetic oligonucleotide probes. Body condition, age, and dominance rank have an impact on male progeny production, while canine size does not. We suggest that nonagonistic competition in the form of sperm competition and endurance rivalry will modulate male reproductive success. A large body size among males provides them with an advantage in both sperm competition and endurance rivalry. Comparison of the two populations indicated that demographic, social, ecological, and morphological factors interact to regulate variation in reproductive success among male nonhuman primates.
    Additional Material: 2 Ill.
    Type of Medium: Electronic Resource
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