Literature DB >> 1974719

Haplotype of multiple polymorphisms resolved by enzymatic amplification of single DNA molecules.

G Ruano1, K K Kidd, J C Stephens.   

Abstract

We have developed a reliable method for the direct resolution of haplotypes or linkage phase from individuals who are multiply heterozygous in a given genomic region. The method is based on single-molecule dilution (SMD) of genomic template and amplification via biphasic polymerase chain reaction (booster PCR). We have verified the feasibility of the SMD method for a highly polymorphic region within the beta-globin cluster by analysis of triply heterozygous individuals of known haplotype. This approach should be useful in many studies in population or evolutionary genetics and in a variety of clinical settings.

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Year:  1990        PMID： 1974719      PMCID： PMC54520          DOI： 10.1073/pnas.87.16.6296

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


  26 in total

1.  Haplotype analysis of the human beta-globin gene complex using multiple locus specific oligonucleotide probes.

Authors:  G Nozari; S Rahbar; R B Wallace
Journal:  Anal Biochem       Date:  1988-07       Impact factor: 3.365

2.  Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction.

Authors:  K B Mullis; F A Faloona
Journal:  Methods Enzymol       Date:  1987       Impact factor: 1.600

3.  Analysis of enzymatically amplified beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes.

Authors:  R K Saiki; T L Bugawan; G T Horn; K B Mullis; H A Erlich
Journal:  Nature       Date:  1986 Nov 13-19       Impact factor: 49.962

Review 4.  The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

Authors:  S H Orkin; H H Kazazian
Journal:  Annu Rev Genet       Date:  1984       Impact factor: 16.830

5.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

6.  Molecular population genetics of the alcohol dehydrogenase gene region of Drosophila melanogaster.

Authors:  C F Aquadro; S F Desse; M M Bland; C H Langley; C C Laurie-Ahlberg
Journal:  Genetics       Date:  1986-12       Impact factor: 4.562

7.  Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria.

Authors:  A G DiLella; J Marvit; A S Lidsky; F Güttler; S L Woo
Journal:  Nature       Date:  1986 Aug 28-Sep 3       Impact factor: 49.962

8.  Nucleotide polymorphism at the alcohol dehydrogenase locus of Drosophila melanogaster.

Authors:  M Kreitman
Journal:  Nature       Date:  1983 Aug 4-10       Impact factor: 49.962

Review 9.  Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

Authors:  D Botstein; R L White; M Skolnick; R W Davis
Journal:  Am J Hum Genet       Date:  1980-05       Impact factor: 11.025

10.  Recombination and balanced chromosome polymorphism suggested by DNA sequences 5' to the human delta-globin gene.

Authors:  N Maeda; J B Bliska; O Smithies
Journal:  Proc Natl Acad Sci U S A       Date:  1983-08       Impact factor: 11.205
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  35 in total

1.  Digital PCR.

Authors:  B Vogelstein; K W Kinzler
Journal:  Proc Natl Acad Sci U S A       Date:  1999-08-03       Impact factor: 11.205

2.  Bayesian haplotype inference for multiple linked single-nucleotide polymorphisms.

Authors:  Tianhua Niu; Zhaohui S Qin; Xiping Xu; Jun S Liu
Journal:  Am J Hum Genet       Date:  2001-11-26       Impact factor: 11.025

3.  Clone-based systematic haplotyping (CSH): a procedure for physical haplotyping of whole genomes.

Authors:  Carola Burgtorf; Pamela Kepper; Margret Hoehe; Carsten Schmitt; Richard Reinhardt; Hans Lehrach; Sascha Sauer
Journal:  Genome Res       Date:  2003-12       Impact factor: 9.043

4.  Digital genotyping and haplotyping with polymerase colonies.

Authors:  Robi D Mitra; Vincent L Butty; Jay Shendure; Benjamin R Williams; David E Housman; George M Church
Journal:  Proc Natl Acad Sci U S A       Date:  2003-05-02       Impact factor: 11.205

5.  Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations.

Authors:  Devin Dressman; Hai Yan; Giovanni Traverso; Kenneth W Kinzler; Bert Vogelstein
Journal:  Proc Natl Acad Sci U S A       Date:  2003-07-11       Impact factor: 11.205

6.  Direct molecular haplotyping of long-range genomic DNA with M1-PCR.

Authors:  Chunming Ding; Charles R Cantor
Journal:  Proc Natl Acad Sci U S A       Date:  2003-06-11       Impact factor: 11.205

7.  Long-range (17.7 kb) allele-specific polymerase chain reaction method for direct haplotyping of R117H and IVS-8 mutations of the cystic fibrosis transmembrane regulator gene.

Authors:  Genevieve Pont-Kingdon; Mohamed Jama; Christine Miller; Alison Millson; Elaine Lyon
Journal:  J Mol Diagn       Date:  2004-08       Impact factor: 5.568

Review 8.  Single-molecule analysis for molecular haplotyping.

Authors:  Pui-Yan Kwok; Ming Xiao
Journal:  Hum Mutat       Date:  2004-05       Impact factor: 4.878

9.  Genotyping and haplotyping of polymorphisms directly from genomic DNA via coupled amplification and sequencing (CAS).

Authors:  G Ruano; K K Kidd
Journal:  Nucleic Acids Res       Date:  1991-12-25       Impact factor: 16.971

10.  Coupled amplification and sequencing of genomic DNA.

Authors:  G Ruano; K K Kidd
Journal:  Proc Natl Acad Sci U S A       Date:  1991-04-01       Impact factor: 11.205
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