Literature DB >> 8972876

Molecular haplotyping of genetic markers 10 kb apart by allele-specific long-range PCR.

S Michalatos-Beloin1, S A Tishkoff, K L Bentley, K K Kidd, G Ruano.   

Abstract

Haplotypes, combinations of polymorphic markers in a chromosome, are critical for genome diversity research. However, their utility in population samplings is compromised by uncertain linkage phase determinations from unrelated individuals. Molecular haplotyping accomplishes direct phase determination by generation of hemizygous templates from diploid genomic samples. We report molecular haplotyping by allele-specific long-range PCR of two markers 9.5 kb apart at the CD4 locus: a bi-allelic Alu deletion and a multi-allelic repeat. We verified CD4 molecular haplotypes by classical Mendelian analysis. Molecular haplotyping should prove useful in mapping disease genes and in establishing founder effects.

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Year:  1996        PMID： 8972876      PMCID： PMC146303          DOI： 10.1093/nar/24.23.4841

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


  15 in total

1.  A human dimorphism resulting from loss of an Alu.

Authors:  M C Edwards; R A Gibbs
Journal:  Genomics       Date:  1992-11       Impact factor: 5.736

2.  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

3.  Pentanucleotide repeat length polymorphism at the human CD4 locus.

Authors:  M C Edwards; P R Clemens; M Tristan; A Pizzuti; R A Gibbs
Journal:  Nucleic Acids Res       Date:  1991-09-11       Impact factor: 16.971

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

Authors:  G Ruano; K K Kidd; J C Stephens
Journal:  Proc Natl Acad Sci U S A       Date:  1990-08       Impact factor: 11.205

5.  Direct haplotyping of chromosomal segments from multiple heterozygotes via allele-specific PCR amplification.

Authors:  G Ruano; K K Kidd
Journal:  Nucleic Acids Res       Date:  1989-10-25       Impact factor: 16.971

Review 6.  Linkage disequilibrium as a gene-mapping tool.

Authors:  L B Jorde
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

Review 7.  Disease gene mapping in isolated human populations: the example of Finland.

Authors:  A de la Chapelle
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

8.  A P1-based physical map of the region from D17S776 to D17S78 containing the breast cancer susceptibility gene BRCA1.

Authors:  S L Neuhausen; J Swensen; Y Miki; Q Liu; S Tavtigian; D Shattuck-Eidens; A Kamb; M R Hobbs; J Gingrich; H Shizuya
Journal:  Hum Mol Genet       Date:  1994-11       Impact factor: 6.150

9.  PCR amplification of up to 35-kb DNA with high fidelity and high yield from lambda bacteriophage templates.

Authors:  W M Barnes
Journal:  Proc Natl Acad Sci U S A       Date:  1994-03-15       Impact factor: 11.205

10.  A prospective evaluation of an angiotensin-converting-enzyme gene polymorphism and the risk of ischemic heart disease.

Authors:  K Lindpaintner; M A Pfeffer; R Kreutz; M J Stampfer; F Grodstein; F LaMotte; J Buring; C H Hennekens
Journal:  N Engl J Med       Date:  1995-03-16       Impact factor: 91.245
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  36 in total

1.  The accuracy of statistical methods for estimation of haplotype frequencies: an example from the CD4 locus.

Authors:  S A Tishkoff; A J Pakstis; G Ruano; K K Kidd
Journal:  Am J Hum Genet       Date:  2000-06-19       Impact factor: 11.025

2.  Score tests for association between traits and haplotypes when linkage phase is ambiguous.

Authors:  Daniel J Schaid; Charles M Rowland; David E Tines; Robert M Jacobson; Gregory A Poland
Journal:  Am J Hum Genet       Date:  2001-12-27       Impact factor: 11.025

3.  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

4.  Accuracy of haplotype frequency estimation for biallelic loci, via the expectation-maximization algorithm for unphased diploid genotype data.

Authors:  D Fallin; N J Schork
Journal:  Am J Hum Genet       Date:  2000-08-22       Impact factor: 11.025

5.  Haplotype block structure and its applications to association studies: power and study designs.

Authors:  Kui Zhang; Peter Calabrese; Magnus Nordborg; Fengzhu Sun
Journal:  Am J Hum Genet       Date:  2002-11-18       Impact factor: 11.025

6.  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

7.  Inference on haplotype effects in case-control studies using unphased genotype data.

Authors:  Michael P Epstein; Glen A Satten
Journal:  Am J Hum Genet       Date:  2003-11-20       Impact factor: 11.025

8.  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

9.  Haplotype block partition with limited resources and applications to human chromosome 21 haplotype data.

Authors:  Kui Zhang; Fengzhu Sun; Michael S Waterman; Ting Chen
Journal:  Am J Hum Genet       Date:  2003-06-10       Impact factor: 11.025

10.  An efficient haplotyping method with DNA pools.

Authors:  Ester Inbar; Benjamin Yakir; Ariel Darvasi
Journal:  Nucleic Acids Res       Date:  2002-08-01       Impact factor: 16.971
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