Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.
Science
; 280(5366): 1077-82, 1998 May 15.
Article
em En
| MEDLINE
| ID: mdl-9582121
ABSTRACT
Single-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome, and they provide powerful tools for a variety of medical genetic studies. In a large-scale survey for SNPs, 2.3 megabases of human genomic DNA was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips. A total of 3241 candidate SNPs were identified. A genetic map was constructed showing the location of 2227 of these SNPs. Prototype genotyping chips were developed that allow simultaneous genotyping of 500 SNPs. The results provide a characterization of human diversity at the nucleotide level and demonstrate the feasibility of large-scale identification of human SNPs.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
/
Genoma Humano
/
Técnicas Genéticas
/
Mapeamento Cromossômico
/
Desoxirribonucleotídeos
/
Genótipo
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Science
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Estados Unidos