Identification of a base pair substitution at the tetranucleotide tandem repeat locus DHFRP2 (AAAC)n in a worldwide survey
| ISSN: |
1437-1596
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| Keywords: |
STR ; Mutation ; DHFRP2 ; PCR ; Population genetics
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| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Medicine
Law
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| Notes: |
Abstract 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 top = 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.
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| Type of Medium: |
Electronic Resource
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| URL: |