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

Julie M Gastier; Thomas Brody; Jacqueline C Pulido; Thomas Businga; Sara Sunden; Xintong Hu; Shanak Maitra; Kenneth H  Buetow; Jeffrey C Murray; Val C Sheffield; Mark Boguski; Geoffrey Duyk; Thomas J Hudson

doi:10.1006/geno.1996.0078

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

Journal article

Peer reviewed

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

Julie M Gastier, Thomas Brody, Jacqueline C Pulido, Thomas Businga, Sara Sunden, Xintong Hu, Shanak Maitra, Kenneth H Buetow, Jeffrey C Murray, Val C Sheffield, …

Genomics (San Diego, Calif.), Vol.32(1), pp.75-85

1996

DOI: 10.1006/geno.1996.0078

PMID: 8786123

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Abstract

The expansion of a (CAG/CTG)ntriplet 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)ntriplet expansions, we have isolated numerous genomic clones containing this class of repeats. We have developed 338 sequence-tagged sites (STSs) containing (CAG/CTG)nrepeat 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)nrepeats of at least seven units were genotyped on four reference CEPH individuals to estimate their polymorphic quality.

Fundamental and applied biological sciences. Psychology

Classical genetics, quantitative genetics, hybrids

Human

Biological and medical sciences

Genetics of eukaryotes. Biological and molecular evolution

Details

Title: Subtitle: Development of a screening set for new (CAG/CTG)n dynamic mutations
Creators: Julie M Gastier - Harvard medical school, dep. genetics, Boston MA 02115, United States
Thomas Brody - Harvard medical school, dep. genetics, Boston MA 02115, United States
Jacqueline C Pulido - Harvard medical school, dep. genetics, Boston MA 02115, United States
Thomas Businga - Harvard medical school, dep. genetics, Boston MA 02115, United States
Sara Sunden - Harvard medical school, dep. genetics, Boston MA 02115, United States
Xintong Hu - Harvard medical school, dep. genetics, Boston MA 02115, United States
Shanak Maitra - Harvard medical school, dep. genetics, Boston MA 02115, United States
Kenneth H Buetow - Harvard medical school, dep. genetics, Boston MA 02115, United States
Jeffrey C Murray - Harvard medical school, dep. genetics, Boston MA 02115, United States
Val C Sheffield - Harvard medical school, dep. genetics, Boston MA 02115, United States
Mark Boguski - Harvard medical school, dep. genetics, Boston MA 02115, United States
Geoffrey Duyk - Harvard medical school, dep. genetics, Boston MA 02115, United States
Thomas J Hudson - Harvard medical school, dep. genetics, Boston MA 02115, United States
Resource Type: Journal article
Publication Details: Genomics (San Diego, Calif.), Vol.32(1), pp.75-85
DOI: 10.1006/geno.1996.0078
PMID: 8786123
NLM abbreviation: Genomics
ISSN: 0888-7543
eISSN: 1089-8646
Publisher: Elsevier; San Diego, CA
Language: English
Date published: 1996
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pathology; Iowa Neuroscience Institute; Medical Genetics and Genomics; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research; Ophthalmology and Visual Sciences
Record Identifier: 9984025374502771

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