HUMAN GENES CONTAINING POLYMORPHIC TRINUCLEOTIDE REPEATS

被引：170

作者：

RIGGINS, GJ

LOKEY, LK

CHASTAIN, JL

LEINER, HA

SHERMAN, SL

WILKINSON, KD

WARREN, ST

机构：

[1] EMORY UNIV,SCH MED,DEPT BIOCHEM,ATLANTA,GA 30322

[2] EMORY UNIV,SCH MED,DEPT PEDIAT,DIV MED GENET,ATLANTA,GA 30322

[3] EMORY UNIV,SCH MED,HOWARD HUGHES MED INST,ATLANTA,GA 30322

来源：

NATURE GENETICS | 1992年 / 2卷 / 03期

关键词：

D O I：

10.1038/ng1192-186

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Expansions of trinucleotide repeats within gene transcripts are responsible for fragile X syndrome, myotonic dystrophy and spinal and bulbar muscular atrophy. To identify other human genes with similar features as candidates for triplet repeat expansion mutations, we screened human cDNA libraries with repeat probes and searched databases for transcribed genes with repeats. From both strategies, 40 genes were identified and 14 characterized. Five were found to contain repeats which are highly polymorphic including the N-cadherin, BCR, glutathione-S-transferase and Na+/K+ ATPase (beta-subunit) genes. These data demonstrate the occurrence of other human loci which may undergo this novel mechanism of mutagenesis giving rise to genetic disease.

引用

页码：186 / 191

页数：6

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