title: Carrier detection for hemophilia B: evaluation of multiple polymorphic sites.
abstract: DNA analysis was performed in families with hemophilia B. Restriction fragment length polymorphisms (RFLPs) produced by endonucleases Taql, Xmnl, and Ddel were studied by two factor IX genomic probes, F9(VIII) and F9(XIII). Fifty-seven subjects from ten families were investigated; of them, 31 were carriers (11 obligate and 20 potential). Of the potential carriers, ten displayed laboratory features allowing for a phenotypic diagnosis of heterozygosity. Segregation analysis of the markers was informative in 19/20 potential carriers, which belong to nine of the ten studied families. Among the potential carriers, Taql allowed the carriership assessment in 15 (78.9%), Xmnl in 15 (94.7%), and Ddel in two (10.4%). Diagnosis was not possible in one family since a homozygosity in the key individuals with all the employed enzymes (Taql, Xmnl, Ddel, + BamHI) was found. Hemophilia B syndrome in two families likely results from a new mutation. In one family, a first-trimester prenatal diagnosis was performed. The use of RFLP analysis allowed us to improve genetic counseling as compared with the phenotypic evaluation by clotting factor assays. Indeed, evaluation of RFLP increased by 26% the carriership assessment of the potential carriers of the hemophilia B trait.
authors.affiliation: Department of Human Biopathology, University of Rome, La Sapienza, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Mariani
authors.forename: A
authors.initials: A
authors.lastname: Chistolini
authors.forename: H J
authors.initials: HJ
authors.lastname: Hassan
authors.forename: E
authors.initials: E
authors.lastname: Gallo
authors.forename: X G
authors.initials: XG
authors.lastname: Gu
authors.forename: M
authors.initials: M
authors.lastname: Papacchini
authors.forename: T
authors.initials: T
authors.lastname: Di Paolantonio
authors.forename: A
authors.initials: A
authors.lastname: Fantoni
mesh_terms: D015342:DNA Probes; D005164:Factor IX / Q000235:genetics*; D006580:Genetic Carrier Screening / Q000379:methods*; D002836:Hemophilia B / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis
chemical_list: D015342:DNA Probes; D005164:Factor IX