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PMID: 2883106 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Cystic fibrosis: typing 48 German families with linked DNA probes.

Human genetics ·Vol. 75 ·No. 4 ·1987-04-00 ·Pages 359-61

Mathy L, Kampmann W, Higuchi M, Schwartenbeck G, Bartholomé K, Driesel AJ, Grzeschik KH, Olek K

Abstract

Two hundred and thirty five subjects from 48 German cystic fibrosis (CF) families were typed for restriction fragment length polymorphisms (RFLPs) detected by the probes pmet H, pmet D, and pJ 3.11, known to be tightly linked to the CF gene. Gene and haplotype frequencies suggest a linkage disequilibrium with the CF locus. The analysis of the predictive value of this typing in individual CF families indicates that the combined use of these probes provides a powerful diagnostic system both for carrier detection and prenatal diagnosis. In 33 out of 48 families carriers and non-carriers could be identified, and in 26 of these 33 families prenatal diagnosis could discriminate between affected and unaffected offspring.

MeSH Terms
Chromosome Mapping Chromosomes, Human, Pair 7 Cystic Fibrosis/genetics Genetic Carrier Screening Germany Haplotypes Humans Polymorphism, Restriction Fragment Length Prenatal Diagnosis
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Mathy L
Kampmann W
Higuchi M
Schwartenbeck G
Bartholomé K
Driesel A J
Grzeschik K H
Olek K
References (4)
4 references, click to expand
  1. Localization of cystic fibrosis locus to human chromosome 7cen-q22.
    Nature. 1985 Nov 28-Dec 4;318(6044):384-5 PMID: 2999612
  2. Regional mapping of six cloned DNA sequences on human chromosome 7.
    Am J Hum Genet. 1986 Mar;38(3):280-7 PMID: 3456704
  3. A closely linked genetic marker for cystic fibrosis.
    Nature. 1985 Nov 28-Dec 4;318(6044):382-4 PMID: 3906407
  4. Construction of a genetic linkage map in man using restriction fragment length polymorphisms.
    Am J Hum Genet. 1980 May;32(3):314-31 PMID: 6247908
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
Published
1987-04-00
Pages
359-61
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
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