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

2 Citations (Scopus)

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

Fingerprint

Linkage Disequilibrium
Prenatal Diagnosis
Cystic Fibrosis
North America
Genetic Markers
Netherlands
Italy
Population

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Dean, M., Amos, J. A., Lynch, J., Romeo, G., Devoto, M., Ward, K., ... 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

Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8. / Dean, Michael; Amos, Jean A.; Lynch, Jennifer; Romeo, Giovanni; Devoto, Marcella; Ward, Ken; Halley, Dicky; Oostra, Ben; Ferrari, Maurizio; Russo, Silvia; Weir, Bruce S.; Finn, Paula B.; Collins, Francis S.; Iannuzzi, Michael C.

In: Human Genetics, Vol. 85, No. 3, 08.1990, p. 275-278.

Research output: Contribution to journalArticle

Dean, M, Amos, JA, Lynch, J, Romeo, G, Devoto, M, Ward, K, Halley, D, Oostra, B, Ferrari, M, Russo, S, Weir, BS, Finn, PB, Collins, FS & Iannuzzi, MC 1990, 'Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8', Human Genetics, vol. 85, no. 3, pp. 275-278. https://doi.org/10.1007/BF00206745
Dean, Michael ; Amos, Jean A. ; Lynch, Jennifer ; Romeo, Giovanni ; Devoto, Marcella ; Ward, Ken ; Halley, Dicky ; Oostra, Ben ; Ferrari, Maurizio ; Russo, Silvia ; Weir, Bruce S. ; Finn, Paula B. ; Collins, Francis S. ; Iannuzzi, Michael C. / Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8. In: Human Genetics. 1990 ; Vol. 85, No. 3. pp. 275-278.
@article{f6f2feaa256a4ca0b2354ccb4ceee8b9,
title = "Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8",
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.",
author = "Michael Dean and Amos, {Jean A.} and Jennifer Lynch and Giovanni Romeo and Marcella Devoto and Ken Ward and Dicky Halley and Ben Oostra and Maurizio Ferrari and Silvia Russo and Weir, {Bruce S.} and Finn, {Paula B.} and Collins, {Francis S.} and Iannuzzi, {Michael C.}",
year = "1990",
month = "8",
doi = "10.1007/BF00206745",
language = "English",
volume = "85",
pages = "275--278",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "3",

}

TY - JOUR

T1 - Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8

AU - Dean, Michael

AU - Amos, Jean A.

AU - Lynch, Jennifer

AU - Romeo, Giovanni

AU - Devoto, Marcella

AU - Ward, Ken

AU - Halley, Dicky

AU - Oostra, Ben

AU - Ferrari, Maurizio

AU - Russo, Silvia

AU - Weir, Bruce S.

AU - Finn, Paula B.

AU - Collins, Francis S.

AU - Iannuzzi, Michael C.

PY - 1990/8

Y1 - 1990/8

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0024993036&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0024993036&partnerID=8YFLogxK

U2 - 10.1007/BF00206745

DO - 10.1007/BF00206745

M3 - Article

VL - 85

SP - 275

EP - 278

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 3

ER -