title: Carrier detection and prenatal diagnosis in haemophilia A and B.
abstract: Sixty probable carriers of haemophilia from 25 families were studied by using coagulation phenotype and DNA analysis: 33 with haemophilia A and 27 with haemophilia B. Coagulation phenotype was based on factor VIII/IX assay and DNA analysis on the examination of restriction fragment length polymorphisms (RFLPs) within and closely linked to factor VIII or IX: 3 RFLP for factor VIII and 3 for factor IX. The comparison between the coagulation phenotype and RFLP analysis showed the misclassification of 15 females (6 for haemophilia A and 9 for haemophilia B). Four prenatal haemophilia A diagnosis were made by DNA analysis of chorionic villi, taken with a transcervical trophoblastic biopsy, between the 18th and the 11th week.
authors.affiliation: Istituto di Biopatologia Umana, Università La Sapienza, Roma, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Chistolini
authors.forename: M
authors.initials: M
authors.lastname: Papacchini
authors.forename: M G
authors.initials: MG
authors.lastname: Mazzucconi
authors.forename: G
authors.initials: G
authors.lastname: La Verde
authors.forename: R
authors.initials: R
authors.lastname: Arcieri
authors.forename: A
authors.initials: A
authors.lastname: Ferrari
authors.forename: R
authors.initials: R
authors.lastname: Paesano
authors.forename: A
authors.initials: A
authors.lastname: Pachi
authors.forename: G
authors.initials: G
authors.lastname: Mariani
mesh_terms: D015193:Chorionic Villi Sampling; D015342:DNA Probes; D004303:Dosage Compensation, Genetic; D005164:Factor IX / Q000235:genetics; D005169:Factor VIII / Q000235:genetics; D005188:False Negative Reactions; D005189:False Positive Reactions; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D015342:DNA Probes; D005819:Genetic Markers; D005169:Factor VIII; D005164:Factor IX