AN UNSTABLE TRIPLET REPEAT IN A GENE RELATED TO MYOTONIC MUSCULAR-DYSTROPHY

被引：1307

作者：

FU, YH

PIZZUTI, A

FENWICK, RG

KING, J

RAJNARAYAN, S

DUNNE, PW

DUBEL, J

NASSER, GA

ASHIZAWA, T

DEJONG, P

WIERINGA, B

KORNELUK, R

PERRYMAN, MB

EPSTEIN, HF

CASKEY, CT

机构：

[1] BAYLOR COLL MED,INST MOLEC GENET,HOUSTON,TX 77030

[2] BAYLOR COLL MED,CTR HUMAN GENOME,HOUSTON,TX 77030

[3] BAYLOR COLL MED,DEPT NEUROL,HOUSTON,TX 77030

[4] UNIV CALIF LAWRENCE LIVERMORE NATL LAB,LIVERMORE,CA 94550

[5] CATHOLIC UNIV NIJMEGEN,DEPT CELL BIOL & HISTOL,NIJMEGEN,NETHERLANDS

[6] CHILDRENS HOSP EASTERN ONTARIO,DEPT GENET,OTTAWA K1H 8L1,ONTARIO,CANADA

[7] BAYLOR COLL MED,DEPT CARDIOL,HOUSTON,TX 77030

[8] BAYLOR COLL MED,HOWARD HUGHES MED INST,HOUSTON,TX 77030

来源：

SCIENCE | 1992年 / 255卷 / 5049期

关键词：

D O I：

10.1126/science.1546326

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Synthetic oligonucleotides containing GC-rich triplet sequences were used in a scanning strategy to identify unstable genetic sequences at the myotonic dystrophy (DM) locus. A highly polymorphic GCT repeat was identified and found to be unstable, with an increased number of repeats occurring in DM patients. In the case of severe congenital DM, the paternal triplet allele was inherited unaltered while the maternal, DM-associated allele was unstable. These studies suggest that the mutational mechanism leading to DM is triplet amplification, similar to that occurring in the fragile X syndrome. The triplet repeat sequence is within a gene (to be referred to as myotonin-protein kinase), which has a sequence similar to protein kinases.

引用

页码：1256 / 1258

页数：3

共 21 条

[1] CLONING OF THE ESSENTIAL MYOTONIC-DYSTROPHY REGION AND MAPPING OF THE PUTATIVE DEFECT [J].