title: Carrier detection in factor VII congenital deficiency.
abstract: Thirty obligate and 28 possible carriers of factor VII congenital deficiency, belonging to 16 families, were studied in relation to the immunological variants to which the kindreds belonged, namely, VII+, VIIR and VII-. Factor VII activity and antigen determinations in these subjects formed two phenotypical patterns: a discrepant pattern characterized by a low ratio activity/antigen present in VII+ heterozygotes, and a non-discrepant pattern (normal ratio activity/antigen) which is present in the VII- and VIIR variants. In the first genetic variant the detection of carriers can be performed using the ratio VII:C/VII:Ag. In the other variant, which accounts for the vast majority of heterozygotes, the distribution of the carriers' factor VII is so widespread that a large overlap results between these subjects and the normals. The application of a probabilistic calculation performed by combining the actual values of factor VII:C and the genetic probability of carriership using Fisher's linear discriminant analysis, makes discrimination between carriers and normals easier.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000941:Antigens / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D005167:Factor VII / Q000032:analysis / Q000276:immunology; D005168:Factor VII Deficiency / Q000097:blood / Q000235:genetics* / Q000276:immunology; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D007223:Infant; D008875:Middle Aged; D011336:Probability
chemical_list: D000941:Antigens; C031500:factor VII related antigen; D005167:Factor VII