title: Diagnosis of neurofibromatosis I by using tightly linked, flanking DNA markers.
abstract: We tested 132 individuals from 21 families segregating an allele for neurofibromatosis type 1 (NF-1), by using nine RFLPs tightly linked to the NF-1 locus. Family members had requested DNA testing either to determine whether "at risk" children were carrying the NF-1 allele or to determine whether their respective families would be informative for prenatal testing. Predictions about whether a child carries the NF-1 mutation were possible for all 32 at-risk offspring (greater than 98% accuracy based on the recombination estimates currently available for these DNA markers). At least one informative probe was available for all 23 matings in these 21 families; flanking markers were informative for 10 matings. Pairwise analysis showed that several of the polymorphisms were in tight linkage disequilibrium; few recombination events were observed with these markers in the families under study. We conclude that the DNA probes used in this study perform well for diagnostic testing of NF-1 in familial cases. A subset of five probe-enzyme systems (pHHH202/RsaI, p11-3C4.2/MspI, pTH17.19/Bg/II, p11-2C11.7/BamHI, and p11-2F9.8/TaqI) provide reliable linkage information for both clinical testing and prenatal diagnosis.
authors.affiliation: Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City 84132.
authors.forename: K
authors.initials: K
authors.lastname: Ward
authors.forename: P
authors.initials: P
authors.lastname: O'Connell
authors.forename: J C
authors.initials: JC
authors.lastname: Carey
authors.forename: M
authors.initials: M
authors.lastname: Leppert
authors.forename: S
authors.initials: S
authors.lastname: Jolley
authors.forename: R
authors.initials: R
authors.lastname: Plaetke
authors.forename: B
authors.initials: B
authors.lastname: Ogden
authors.forename: R
authors.initials: R
authors.lastname: White
mesh_terms: D000483:Alleles; D004247:DNA / Q000235:genetics*; D015342:DNA Probes; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D005819:Genetic Markers / Q000032:analysis*; D006801:Humans; D008126:Lod Score; D008297:Male; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA