title: Factor IX mutations in haemophilia B patients in Malaysia: a preliminary study.
abstract: Haemophilia B is caused by coagulation defects in the factor IX gene located in Xq27.1 on the X chromosome. Identification of mutations contributing to defective factor IX may be advantageous for precise carrier and prenatal diagnosis. We studied 16 patients from 11 families, consisting of 8 patients of the Malay ethnic group, of which 6 were siblings. Factor IX mutations have not been previously reported in the Malay ethnic group. The functional region of the factor IX gene was sequenced and mutations were identified in either the exon or intronic regions in 15 of the patients. One novel mutation, 6660_6664delTTCTT was identified in siblings with moderate form of haemophilia B. Mutations identified in our patients when linked with disease severity were similar to findings in other populations. In summary, this preliminary data will be used to build a Malaysian mutation database which would facilitate genetic counseling.
authors.affiliation: Molecular Pathology Unit, Cancer Research Centre, Institute for Medical Research, Kuala Lumpur, Malaysia. pauline@imr.gov.my
authors.forename: Pauline
authors.initials: P
authors.lastname: Balraj
authors.forename: Munirah
authors.initials: M
authors.lastname: Ahmad
authors.forename: Alan Soo Beng
authors.initials: AS
authors.lastname: Khoo
authors.forename: Yasmin
authors.initials: Y
authors.lastname: Ayob
mesh_terms: D002681:China / Q000208:ethnology; D004252:DNA Mutational Analysis; D005164:Factor IX / Q000032:analysis / Q000235:genetics*; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D002836:Hemophilia B / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D006801:Humans; D007194:India / Q000208:ethnology; D008296:Malaysia / Q000208:ethnology; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D017354:Point Mutation; D012720:Severity of Illness Index; D035781:Siblings
chemical_list: D005164:Factor IX