Molecular Haplotyping by PyrosequencingTM
نویسندگان
چکیده
منابع مشابه
Benchmark Molecular Haplotyping by Pyrosequencing
Several million SNPs have been identified and are available in the public databases. For most, no effect on gene function or expression is known. “Functional polymorphisms” refers to SNPs to which a putative effect on gene function or expression is attributed and implies that they are “non-silent” variations located in regions that are coding, regulatory, splice sites, or untranslated regions t...
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Many methods exist for genotyping--revealing which alleles an individual carries at different genetic loci. A harder problem is haplotyping--determining which alleles lie on each of the two homologous chromosomes in a diploid individual. Conventional approaches to haplotyping require the use of several generations to reconstruct haplotypes within a pedigree, or use statistical methods to estima...
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Single nucleotide polymorphisms (SNPs) within a gene region have often been studied to determine their effect on phenotype. Although a single base pair change can produce a phenotypic change, phenotype is often influenced by the presence of multiple polymorphisms and their relative positions within a given region. For example, if multiple changes occur in a promoter region, how they influence g...
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Separate haploid analysis is frequently required for heterozygous genotyping to resolve phase ambiguity or confirm allelic sequence. We demonstrate a technique of single-molecule dilution followed by multiple strand displacement amplification to haplotype polymorphic alleles. Dilution of DNA to haploid equivalency, or a single molecule, is a simple method for separating di-allelic DNA. Strand d...
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Linking emulsion PCR (LE-PCR) enables formation of minichromosomes preserving phase information of two polymorphic loci, hence the haplotype. Emulsion PCR confines two amplicons of two linked polymorphic sites on a single template molecule to one aqueous-phase droplet. Linking PCR uses biotinylated, overlapping linking primers to connect these amplicons in the droplet. After LE-PCR, unlinked am...
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ژورنال
عنوان ژورنال: BioTechniques
سال: 2002
ISSN: 0736-6205,1940-9818
DOI: 10.2144/02335dd02