Ａｎａｌｙｓｉｓ ｏｆ Ｉｎｔｒｏｎ 22 Ｉｎｖｅｒｓｉｏｎ Ｍｕｔａｔｉｏｎ ｏｆ Ｆａｃｔｏｒ
Ａｎａｌｙｓｉｓ ｏｆ Ｉｎｔｒｏｎ 22 Ｉｎｖｅｒｓｉｏｎ Ｍｕｔａｔｉｏｎ ｏｆ Ｆａｃｔｏｒ Ⅷ Ｇｅｎｅｉｎ ｔｈｅ Ｐａｔｉｅｎｔｓ Ｗｉｔｈ Ｈｅｍｏｐｈｉｌｉａ Ａ ｉｎ ｊ＆ｋ Ｓｔ
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ABSTRACT: Objectivcv Hemophilia A, an X-linked bleeding disorder, affecting 1 in 5 000 males is caused by heterogeneousmutations in factor vm gene. Inversion mutation' in intron 22 of FSC gene remains its leading cause. The aim of this study was toevaluate the frequency and distribfijtion of the intron 22-inversion mutation in the patients and in the family members in the region.Methods 29 hemophilia A patients from Jammu and Kashmir (20 severe, 8 moderate and 1 mild) were analyzed for intron 22-inversion mutation. Results 11 (38 % ) were positive for the distal type of inversion mutation. The mutation was found in 9/20(45%) patients with severe factor W deficiency and 2/8 (25%) with moderate severity hemophilia A, whereas the patient withmild hemophilia A was found to be negative for inversion mutation. Evaluation of twenty-six female relatives from 11 families ofinversion mutation positive patients identified one mother and one sister from one family to be the carrier, suggesting its origin inthe mother. Conclusion
The present study confirms the intron-22 inversion mutation in F8C gene as the major cause ofhemophilia A in the population from Jammu and Kashmir with a higher frequency of inversion mutation in sporadic cases comparedto the familial cases.
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Key words：hemophilia A；factorⅧ；inversion；intron22
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