Rapid, Long-Range Molecular Haplotyping of
Thiopurine S-methyltransferase
(TPMT) *3A, *3B, and *3C
Nicolas von Ahsen,* Victor W. Armstrong, and Michael Oellerich
Background: Haplotyping is an important technique in
molecular diagnostics because haplotypes are often
more predictive for individual phenotypes than are the
underlying single-nucleotide polymorphisms (SNPs).
Until recently, methods for haplotyping SNPs separated
by kilobase distances were laborious and not applicable
to high-throughput screening. In the case of thiopurine
S-methyltransferase (TPMT), differentiating among
TPMT*3A, *3B, and *3C alleles is sometimes necessary
for predictive genotyping.
Methods: The genomic region including the two SNPs
that define TPMT*3A, *3B, and *3C alleles was amplified
by long-range PCR. The resulting PCR product was
circularized by ligation and haplotyped by allele-specific
amplification PCR followed by product identification
with hybridization probes.
Results:......
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