title: [XbaI polymorphism in intron 22 of factor VIII and gene potential for prenatal diagnosis of hemophilia A].
abstract: Polymorphism of an XbaI restriction endonuclease site in intron 22 of the factor VIII gene was studied. 79 heredity-unrelated X chromosomes from 83 Chinese were analyzed. The frequency of the polymorphic site was 0.56, providing polymorphism information content (PIC) of 0.49. Fourteen out of 17 families with hemophilia A could be diagnosed by the Xba 1/22i restricted fragment length polymorphism (RFLPs). Therefore, as a genetic marker within the factor VIII gene, Xba I/22i RFLPs should be useful for prenatal diagnosis of hemophilia A and for detection of its carriers.
authors.affiliation: Institute of Basic Medical Sciences, Beijing.
authors.forename: Y
authors.initials: Y
authors.lastname: Shen
mesh_terms: D005169:Factor VIII / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005817:Genetic Counseling; D006467:Hemophilia A / Q000175:diagnosis*; D006801:Humans; D007438:Introns; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D005169:Factor VIII