Objective:Hemophilia A,an X-linked bleeding disorder,affecting 1 in 5000 males is caused by heterogeneous mutations in factor VIII *** mutation in intron 22 of F8C gene remains its leading *** aim of this study was to...
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Objective:Hemophilia A,an X-linked bleeding disorder,affecting 1 in 5000 males is caused by heterogeneous mutations in factor VIII *** mutation in intron 22 of F8C gene remains its leading *** aim of this study was to evaluate the frequency and distribution ofthe intron 22-inversion mutation in the patients and in the familymembers in the ***:29 hemophilia A patients from Jammu andKashmir(20 severe,8 moderate and 1 mild) were analyzed for intron 22-inversion ***:11(38%) were positive for the distal type ofinversion *** mutation was found in 9/20 (45%) patients withsevere factor VIII deficiency and 2/8(25%) with moderate severityhemophilia A,whereas the pstient with mild hemophilia A was found to benegative for inversion *** of twenty-six femalerelatives from 11 families of inversion mutation positive patientsidentified one mother and one sister from one family to be the carrier,suggesting its origin in the ***:The present studyconfirms the intron-22 inversion mutation in F8C gene as the major cause of hemophilia A in the population from Jammu and Kashmir with a higherfrequency of inversion mutation in sporadic cases compared to thefamilial cases.
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