Identification of a base pair substitution at the tetranucleotide tandem repeat locus DHFRP2 (AAAC)n in a worldwide survey.
An allele heterogeneity in a short tandem repeat at the human dihydrofolate reductase pseudogene (DHFRP2) was detected using non-denaturing gel electrophoresis and ethidium bromide staining. Sequence analysis of the allele, designated 9A, revealed the C to A substitution in the 8th AAAC repeat. A survey of 16 worldwide human populations showed that this mutation was spread through five continents at a relatively high frequency (up to p = 0.19 in Europeans). Some statistical parameters of forensic interest were also calculated (h, PD, EC and PIC) for this polymorphism. This type of heterogeneity stresses the complexity of STR variation.
Pérez-Lezaun
A
A
Laboratori d'Antropologia, Facultat de Biologia, Universitat de Barcelona, Spain.
Calafell
F
F
Mateu
E
E
Comas
D
D
Bertranpetit
J
J
D000483:Alleles; D005787:Gene Frequency; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics*; D017354:Point Mutation; D011544:Pseudogenes / Q000235:genetics*; D013762:Tetrahydrofolate Dehydrogenase / Q000235:genetics*
D013762:Tetrahydrofolate Dehydrogenase