Identification of repeat sequence heterogeneity at the polymorphic short tandem repeat locus HUMTH01[AATG][sub n] and reassignment of alleles in population analysis by using a locus-specific allelic ladder
- Institute for Forensic Medicine, Muenster (Germany)
- Promega Corp., Madison, WI (United States)
An allelic ladder containing amplified sequences of seven alleles of the polymorphic human tyrosine hydroxylase locus, HUMTH01, was constructed and employed as a standard marker. Sequence analysis of each ladder component indicates that fragments differ by integral multiples of the AATG core repeat sequence characteristic of this locus. Individual alles are designated [open quotes]5[close quotes] through [open quotes]11,[close quotes] according to the number of complete reiterations of the core repeat contained within them. Comparison of the HUMTH01 allelic ladder with DNA samples amplified at this locus revealed core repeat length heterogeneity (i.e., deletions or insertions shorter than one core repeat) within the human population. In particular, a common allele was identified which migrates more quickly than allele 10, but more slowly than allele 9, on electrophoresis through a denaturing polyacrylamide gel. Sequence analysis of this allele, designated [open quotes]10-1,[close quotes] reveals lack of a single adenine normally present in the seventh copy of the AATG. The allelic ladder was used to reevaluate previously published population data. Results of testing for Hardy-Weinberg equilibrium and population substructure were not altered significantly by these modifications. 29 refs., 1 fig., 3 tabs.
- OSTI ID:
- 5135098
- Journal Information:
- American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 53:4; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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