Development of a screening set for New (CAG/CTG)(n) dynamic mutations

被引：33

作者：

Gastier, JM

Brody, T

Pulido, JC

Businga, T

Sunden, S

Hu, XT

Maitra, S

Buetow, KH

Murray, JC

Sheffield, VC

Boguski, M

Duyk, GM

Hudson, TJ

机构：

[1] MIT, WHITEHEAD INST, CTR GENOME RES, CAMBRIDGE, MA 02139 USA

[2] HARVARD UNIV, SCH MED, HOWARD HUGHES MED INST, BOSTON, MA 02115 USA

[3] HARVARD UNIV, SCH MED, DEPT GENET, BOSTON, MA 02115 USA

[4] UNIV IOWA, DEPT PEDIAT, IOWA CITY, IA 52242 USA

[5] FOX CHASE CANC CTR, PHILADELPHIA, PA 19111 USA

[6] UNIV IOWA, DEPT BIOL SCI, IOWA CITY, IA 52245 USA

[7] UNIV IOWA, DEPT PEDIAT, IOWA CITY, IA 52245 USA

[8] NATL CTR BIOTECHNOL INFORMAT, BETHESDA, MD 20894 USA

来源：

GENOMICS | 1996年 / 32卷 / 01期

关键词：

D O I：

10.1006/geno.1996.0078

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

The expansion of a (CAG/CTG)(n) triplet repeat has been found to be associated with at least seven genetic diseases, suggesting that this mechanism of disease may be fairly common. To accelerate the discovery of new loci containing (CAG/CTG)(n) triplet expansions, we have isolated numerous genomic clones containing this class of repeats. We have developed 338 sequence-tagged sites (STSs) containing (CAG/CTG)(n) repeat sequences. Two hundred ninety-nine STSs were unambiguously assigned to chromosomes, and 89 of the total were assigned to YACs. The 141 STSs that were developed based on (CAG/CTG)(n) repeats of at least seven units were genotyped on four reference CEPH individuals to estimate their polymorphic quality. (C) 1996 Academic Press, Inc.

引用

页码：75 / 85

页数：11

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