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Eur J Hum Genet. 2003 May;11(5):357-63.

PCR-generated padlock probes distinguish homologous chromosomes through quantitative fluorescence analysis.

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1
The Beijer Laboratory, Department of Genetics and Pathology, Rudbeck Laboratory, SE-751 85 Uppsala, Sweden.

Abstract

Conventional cytogenetic techniques can distinguish homologous chromosomes in a qualitative manner based upon obvious morphological features or using in situ hybridization methods that yield qualitative data. We have developed a method for quantitative genotyping of single-nucleotide variants in situ using circularizable DNA probes, so-called padlock probes, targeting two different alpha satellite repeat variants present in human chromosome 7 centromeres, and a single-nucleotide variation in alpha satellite repeats on human chromosome 15 centromeres. By using these PCR-generated padlock probes, we could quantitatively distinguish homologous chromosomes and follow the transmission of the chromosomes by in situ analysis during three consecutive generations.

PMID:
12734539
DOI:
10.1038/sj.ejhg.5200966
[Indexed for MEDLINE]
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