Molecular haplotyping of genetic markers 10 kb apart by allele-specific long-range PCR
- 1 December 1996
- journal article
- Published by Oxford University Press (OUP) in Nucleic Acids Research
- Vol. 24 (23) , 4841-4843
- https://doi.org/10.1093/nar/24.23.4841
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.Keywords
This publication has 15 references indexed in Scilit:
- A Prospective Evaluation of an Angiotensin-Converting–Enzyme Gene Polymorphism and the Risk of Ischemic Heart DiseaseNew England Journal of Medicine, 1995
- Linkage disequilibrium as a gene-mapping tool.1995
- A P1-based physical map of the region from D17S776 to D17S78 containing the breast cancer susceptibility gene BRCA1Human Molecular Genetics, 1994
- PCR amplification of up to 35-kb DNA with high fidelity and high yield from lambda bacteriophage templates.Proceedings of the National Academy of Sciences, 1994
- Disease gene mapping in isolated human populations: the example of Finland.Journal of Medical Genetics, 1993
- A human dimorphism resulting from loss of an AluGenomics, 1992
- Genotyping and haplotyping of polymorphisms directly from genomic DNA via coupled amplification and sequencing(CAS)Nucleic Acids Research, 1991
- Pentanucleotide repeat length polymorphism at the human CD4 locusNucleic Acids Research, 1991
- Haplotype of multiple polymorphisms resolved by enzymatic amplification of single DNA molecules.Proceedings of the National Academy of Sciences, 1990
- Direct haplotyping of chromosomal segments from multiple heterozygotes via allele-specific PCR amplificationNucleic Acids Research, 1989