Frequency and genetic background of the position 122 (Val----Ile) variant transthyretin gene in the black population.
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- Record sourced from PubMed, PMID 2063870.
- Also identified by PMC identifier 1683217.
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Abstract
Transthyretin (TTR) (122 Val----Ile), caused by a point mutation which destroys a MaeIII restriction site, is associated with cardiac amyloidosis in black individuals. To estimate the frequency of the MaeIII(-) gene in the black population without overt cardiac disease, DNA from 177 black individuals without amyloidosis was amplified by the PCR around TTR codon 122 and was digested with MaeIII. The MaeIII(-) gene frequency was 4/354 (1.1%; 95% confidence interval 0.32%2.7%), suggesting that the variant is relatively common in blacks. HLA genotype testing did not suggest that the TTR (122 Val----Ile) heterozygotes were of a closely related genetic background.
Medical subject headings
- Antigenic Variation
- Black People
- Gene Frequency
- Mutation
- Prealbumin