Efficiency of Bc/l Restriction Fragment Length Polymorphism for Detection of Hemophilia A Carriers in Sistan and Baluchestan Province, Southeast of Iran

Background: indirect genetic diagnosis using polymorphicdna markers can detect carriers of hemophilia a, this techniqueis preferable in developing countries because of its simplicityand cost effectiveness compared to direct mutation analysis.in the present study, we examined usefulness of intragenicmarker bell restriction .fragment length polymorphism (rflp) atintron 18, for carrier detection. how this marker is informativewas tested in 102 members of 16 hemophiliac families from sistanand baluchestan province, southeast of iran.methods: blood samples were obtained from 29 hemophili aa patients and 73 of their relatives, after taking informed consents.dna was extracted using proteinase k digestion followedby dna precipitation. factor viii gene polymorphismwas identified by the polymerase chain reaction/rflp whichis both sensitive and economical.results: our results showed that almost 69.8% of xchromosomeshad restriction s ite for bell enzyme. the heterozygosityrate for bell polymorphism in tested women was61.4%, signifyin g the usefulne ss of this marker in carr ier detection.the informative rate respecting this polymorphismwas 43.7% meaning that a remarkable percent of familiesfrom the target population could be diagnosed using thismarker alone.conclusion: in sistan and baluchestan province where thereis limited access to sophisticated facilities of molecular diagnosis,use of per-based analysis of dna polymorph ism inthe bc/l locus can be used to identify a remarkable percent ageof the carr iers and even for prenatal diagno sis. meanwhile , itis necessary to evaluate the effec tiveness of other polymorphicdna markers to enhance the informative rate .