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Disease-causing mutations in the human genome (2000)

Antonarakis, Stylianos E. ; Krawczak, Michael ; Cooper, David N.

Springer

European journal of pediatrics 159 (2000), S. S173

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ISSN: 1432-1076

Keywords: Key words Databases ; Deletions ; Gene mutations ; Insertions ; Substitutions

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract A considerable number of gene mutations has now been reported in a total of more than 1000 different human genes. Data on these mutations and their associated phenotypes have been collated and are available online through two major databases: Online Mendelian Inheritance in Man in Baltimore and the Human Gene Mutation Database in Cardiff. Since the non-randomness of mutation is determined largely by the local DNA sequence environment, the study of mutation may not only yield information on underlying mechanisms but also lead to the optimization of mutation search strategies. Conclusion There is a high frequency of CG to TG or CA mutations in the human genome due to deamination of 5′methyl-cytosine. The second most common type of mutations in human disorders is short deletions or insertions of less than 20 nucleotides.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/PL00014395

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A paternity case with apparently conflicting multilocus and single-locus DNA typing results (1997)

Kühnau, Wolfgang ; Böhm, Ingolf ; Krawczak, Michael ; [et al.]

Weinheim : Wiley-Blackwell

Electrophoresis 18 (1997), S. 1598-1601

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ISSN: 0173-0835

Keywords: Paternity testing ; DNA fingerprinting ; Multilocus DNA typing ; Single-locus DNA typing ; (CAC)5-oligonucleotide probe ; Chemistry ; Biochemistry and Biotechnology

Source: Wiley InterScience Backfile Collection 1832-2000

Topics: Biology , Chemistry and Pharmacology

Notes: A paternity case is presented in which DNA typing with thirteen variable number of tandem repeat (VNTR) systems was in apparent conflict with an initial multilocus DNA analysis using oligonucleotide probe (CAC)5. A dual approach was necessary, because the multilocus analysis yielded a proportion of aberrant nonmaternal offspring bands far too small and level of band-sharing too high for non-paternity. The case could finally be solved by reference to the joint likelihood ratio combining both approaches. Arguments are presented that summation of log likelihoods is indeed valid even if no information is available regarding linkage between the VNTR loci and the loci contributing to a multilocus DNA fingerprint.

Additional Material: 2 Ill.