A DNA polymorphism for an Xbal site in intron 22 of the human factor VIlI:C gene extends the utility of DNA methods for carrier detection in families segregating for hemophilia A. While the DNA polymorphism detected by a BcII site in intron 1 8 of the factor Vlll:C gene was informative for 41 % of females studied, the BgIl/intron 25 polymerphism provided no additional information because of app...

Linkage studies have been carried out in 20 families segregating for Duchenne muscular dystrophy and eight prenatal diagnoses performed, including six first trimester diagnoses and one twin pregnancy. The results of the restriction fragment length polymorphism (RFLP) analysis suggest that not all the possible RFLPs need to be used and a strategy for carrier detection studies is proposed.

A large kindred with X-linked retinitis pigmentosa (XLRP) was investigated clinically and by means of genetic linkage with a view to developing methods of carrier detection and early diagnosis. A restriction fragment length polymorphism, identified by recombinant DNA probe L1.28, showed close genetic linkage to XLRP in this kindred and is a potentially useful marker for the purposes of genetic ...

this study determines the value of linkage analysis using six rflp markers for carrier detection and prenatal diagnosis in familial dmd/bmd cases and their family members for the first time in the iranian population. we studied the dystrophin gene in 33 unrelated patients with clinical diagnosis of dmd or bmd. subsequently, we determined the rate of heterozygosity for six intragenic rflp marker...

The polymerase chain reaction (PCR) was used to amplify two polymorphic regions in the factor VIII gene. In vitro synthesis of DNA was achieved using samples obtained from buccal cells, urine, and hair follicles in addition to purified genomic and crude DNA samples prepared from whole blood. Female members of two kindreds affected with haemophilia A were assessed for carrier state using direct ...