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The Mutational Spectrum of Human Autosomal Tetranucleotide Microsatellites by Andria M. Leopoldino; Srgio D. J. Pena is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is The Mutational Spectrum of Human Autosomal Tetranucleotide Microsatellites about?

We studied by multiplex amplification and single-run electrophoretic analysis 10 microsatellite loci, composed of nine tetranucleotide-repeats (D1S1612, D3S2387, D4S2431, D5S2501, D10S1237, D15S657, D16S2622, D18S1270, and IFNAR-ALU) and one trinucleotide repeat (D2S1353). After elimination of proven null allele events involving D1S1612 and D5S2501 and of all data of D3S2387, in which we suspected but could not prove the occurrence of null alleles, we were left with nine loci, encompassing 24,224 meioses and 23 mutations. Twenty-two of the mutations (96%) were single-step events. Moreover, 18 of the mutations were paternal, four were maternal, and one was indeterminate. There was no significant difference between the number of additions and deletions in the mutants. Our findings are compatible with a simple model in which tetranucleotide microsatellites mutate primarily in paternal germinative cells by DNA slippage, such that the vast majority of mutations are equiprobable additions or deletions of a single-repeat unit. By combining the data from our tetranucleotide loci with literature information of highly and lowly mutable microsatellites, we observed a very highly significant c

Who reads The Mutational Spectrum of Human Autosomal Tetranucleotide Microsatellites?

Author

Andria M. Leopoldino; Srgio D. J. Pena

Publisher

Hindawi Limited

Published

2002

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)