ISSN:
1437-1596
Schlagwort(e):
Key words Short tandem repeat (STR)
;
Mutation
;
DNA analysis
;
Alleles
;
Paternity testing
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
,
Rechtswissenschaft
Notizen:
Abstract During routine paternity testing a mutation of a paternal allele at the HPRTB locus was observed. The opportunity was taken to analyse this mutation at a molecular level. The repeat sequence is flanked by an imperfect repeat sequence and this region could be involved in the mutation mechanism. For this reason, we also examined the structure of “intermediate” alleles. Sequencing confirmed the insertion of a perfect repeat motif and revealed a deletion of a dinucleotide some 50 nucleotides downstream from the repeat sequence for the intermediate alleles. It is likely that these intermediate alleles are rare biallelic deletion polymorphisms and are probably not involved in the mutation or variation mechanism of this locus.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/s004140050231
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