Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8

Michael Dean, Jean A. Amos, Jennifer Lynch, Giovanni Romeo, Marcella Devoto, Ken Ward, Dicky Halley, Ben Oostra, Maurizio Ferrari, Silvia Russo, Bruce S. Weir, Paula B. Finn, Francis S. Collins, Michael C. Iannuzzi

Research output: Contribution to journalArticle

Abstract

Three polymorphic DNA markers surrounding the D7S8 locus were tested for their usefulness in the diagnosis of cystic fibrosis (CF) by linkage analysis. The markers correspond to the loci D7S424 and D7S426. These polymorphisms were studied by centers in the U.S., the United Kingdom, the Netherlands, and Italy, using samples from populations throughout Europe and North America. The additional information provided by these probes increased the heterogeneity of the region from 50% to 58% and was essential for a completely informative diagnosis in one family. A very high degree of linkage disequilibrium was found between these markers, which span a distance of approximately 250kb. In addition, linkage disequilibrium with CF was noted. Significant heterogeneity of linkage disequilibrium was found among the populations, both for the marker-marker pairs and between the markers and CF.

Original languageEnglish
Pages (from-to)275-278
Number of pages4
JournalHuman Genetics
Volume85
Issue number3
DOIs
Publication statusPublished - Aug 1990

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Dean, M., Amos, J. A., Lynch, J., Romeo, G., Devoto, M., Ward, K., Halley, D., Oostra, B., Ferrari, M., Russo, S., Weir, B. S., Finn, P. B., Collins, F. S., & Iannuzzi, M. C. (1990). Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8. Human Genetics, 85(3), 275-278. https://doi.org/10.1007/BF00206745