Deficiency of TPMT attributed to what genetic mechanism?

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Multiple Choice

Deficiency of TPMT attributed to what genetic mechanism?

Explanation:
The deficiency of TPMT is best explained by single-nucleotide polymorphisms in the TPMT gene. These small DNA changes alter the enzyme’s structure or stability, leading to low or absent TPMT activity. Because TPMT metabolizes thiopurines, individuals with these SNPs can accumulate toxic metabolites and face severe myelosuppression if given standard thiopurine doses. Other mechanisms like copy number variation, promoter methylation, or gene duplication can influence gene expression in some contexts, but the established cause of TPMT deficiency is the presence of SNPs in the TPMT gene.

The deficiency of TPMT is best explained by single-nucleotide polymorphisms in the TPMT gene. These small DNA changes alter the enzyme’s structure or stability, leading to low or absent TPMT activity. Because TPMT metabolizes thiopurines, individuals with these SNPs can accumulate toxic metabolites and face severe myelosuppression if given standard thiopurine doses. Other mechanisms like copy number variation, promoter methylation, or gene duplication can influence gene expression in some contexts, but the established cause of TPMT deficiency is the presence of SNPs in the TPMT gene.

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