A NOVEL VARIANT OF TRANSTHYRETIN (TYR114 TO CYS) DEDUCED FROM THE NUCLEOTIDE-SEQUENCES OF GENE FRAGMENTS FROM FAMILIAL AMYLOIDOTIC POLYNEUROPATHY IN JAPANESE SIBLING CASES

被引：59

作者：

UENO, S ^{[1
]}

UEMICHI, T ^{[1
]}

YORIFUJI, S ^{[1
]}

TARUI, S ^{[1
]}

机构：

[1] OSAKA UNIV,DEPT NEUROL,FUKUSHIMA KU,OSAKA 553,JAPAN

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1990年 / 169卷 / 01期

关键词：

D O I：

10.1016/0006-291X(90)91445-X

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A to G transversion was identified in exon 4 of transthyretin gene in familial amyloidotic polyneuropathy in two sibling cases living in Osaka. This transversion led to the replacement of tyrosine by cysteine residue at codon 114 of 127 residue molecule. This identification was achieved by randomly sequencing recombinant clones containing the entire length of each one of the four exons selectively amplified by polymerase chain reaction. Dot blot analysis with allele-specific oligonucleotides indicated the linkage of this mutation with the disease and confirmed the single base change. © 1990.

引用

页码：143 / 147

页数：5

共 14 条

[1] POLYMORPHISM OF HUMAN-PLASMA THYROXINE BINDING PRE-ALBUMIN [J].