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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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Applications of microsatellite-based Y chromosome haplotyping (1997)

Kayser, Manfred ; De Knijff, Peter ; Dieltjes, Patrick ; [et al.]

Weinheim : Wiley-Blackwell

Electrophoresis 18 (1997), S. 1602-1607

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ISSN: 0173-0835

Keywords: Y chromosome ; Microsatellites ; Forensic application ; Population genetics ; Male evolution ; Chemistry ; Biochemistry and Biotechnology

Source: Wiley InterScience Backfile Collection 1832-2000

Topics: Biology , Chemistry and Pharmacology

Notes: Y-chromosomal microsatellites have been investigated for the purposes of application to male identification, population genetics and population history. With nine markers, every male in a German population sample (n = 70) could be identified by an individual-specific Y microsatellite haplotype. The analysis of 474 unrelated males of nine human populations with seven markers revealed 301 different Y haplotypes. The analysis of molecular variance (AMOVA) approach was used to detect male population characteristics of Y microsatellite haplotypes. With pairwise comparisons of inter-population variance, most of the populations could be distinguished significantly. Sixty individuals from different male populations in Asia and Northern Europe carrying a novel Y-chromosomal T→C transition show reduced microsatellite variability together with haplotype similarities. Microsatellite data suggest that the mutation occurred recently in Asia, supporting the hypothesis of Asian ancestry of some northern European populations.

Additional Material: 4 Tab.