Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy

J Skare; H Yazici; E Erken; H Dede; A Cohen; A Milunsky; M Skinner

doi:10.1007/BF00205182

Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy

Hum Genet. 1990 Nov;86(1):89-90. doi: 10.1007/BF00205182.

Authors

J Skare¹, H Yazici, E Erken, H Dede, A Cohen, A Milunsky, M Skinner

Affiliation

¹ Center for Human Genetics, Boston University School of Medicine, MA 02118.

PMID: 2174830
DOI: 10.1007/BF00205182

Abstract

A Turkish family is described with two members suffering from familial amyloidotic polyneuropathy. Their transthyretin genes were examined using the polymerase chain reaction, and both patients possessed the met30 mutation in both of their transthyretin genes. In this family, only individuals who are homozygous for the met30 mutation have developed symptoms.

Publication types

Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

MeSH terms

Amyloidosis / genetics*
Base Sequence
DNA / genetics
Exons
Female
Homozygote*
Humans
Male
Methionine / genetics*
Molecular Sequence Data
Mutation*
Pedigree
Peripheral Nervous System Diseases / genetics*
Polymerase Chain Reaction
Prealbumin / genetics*
Turkey

Substances

Prealbumin
DNA
Methionine

Grants and funding

etc