Reference
Puers,C., Hammond,H.A., Jin,L., Caskey,C.T., and Schumm,J.W. Identification of repeat
sequence heterogeneity at the polymorphic short tandem repeat locus HUMTH01[AATG]n and reassignment of
alleles in population analysis by using a locus-specific allelic ladder. Am. J. Hum. Genet., 53: 953-958,
1993.
Abstract: 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 alleles are designated "5" through "11," 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 "10-1," 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.
Reference ID: 5052
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