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Frequency and genetic background of the position 122 (Val----Ile) variant transthyretin gene in the black population.

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.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Jacobson DR,Reveille JD,Buxbaum JN

subject

Has Abstract

pub_date

1991-07-01 00:00:00

pages

192-8

issue

1

eissn

0002-9297

issn

1537-6605

journal_volume

49

pub_type

杂志文章,评审

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