title: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis.
abstract: In this study we have analyzed the factor IX gene from 84 hemophilia B patients of Spanish origin. It included single-strand conformation polymorphism (SSCP) analysis of all functional regions of the gene and further sequencing of all fragments showing abnormal migration. In 76 patients (90.4%), it was possible to identify molecular alterations leading to the appearance of the disease. Twenty-one new mutations were identified, including 13 missense mutations, two nonsense mutations, three splice-site mutations, one frameshift deletion, one frameshift insertion, and one non-frameshift deletion. The approach appears to be very suitable for molecular diagnosis of hemophilia B.
authors: Department of Biochemistry, Hospital La Paz, Madrid, Spain.
authors: J M
authors: JM
authors: Montejo
authors: M
authors: M
authors: Magallón
authors: E
authors: E
authors: Tizzano
authors: J
authors: J
authors: Solera
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D005164:Factor IX / Q000235:genetics*; D006580:Genetic Carrier Screening; D006239:Haplotypes; D002836:Hemophilia B / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D013030:Spain
chemical_list: D005164:Factor IX