title: Use of a BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status.
abstract: A BamHI polymorphism has been identified in the human factor IX gene. This polymorphism, which occurs in approximately 6% of X chromosomes, has been used to determine the carrier status of a female in a family with a history of hemophilia B. This family was uninformative for the previously reported TaqI and Xmnl polymorphisms in the factor IX gene.
mesh_terms: D001426:Bacterial Proteins; D004247:DNA / Q000032:analysis; D004262:DNA Restriction Enzymes / Q000378:metabolism*; D015245:Deoxyribonuclease BamHI; D015252:Deoxyribonucleases, Type II Site-Specific; D005164:Factor IX / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic
chemical_list: D001426:Bacterial Proteins; D005164:Factor IX; D004247:DNA; D004262:DNA Restriction Enzymes; D015245:Deoxyribonuclease BamHI; C046184:endodeoxyribonuclease PaeI; C024404:BglII endonuclease; D015252:Deoxyribonucleases, Type II Site-Specific