Mutation reports: intron 1 and 22 inversions in Indian haemophilics
Rafeeq Ahmed1, M Kannan, Ved Prakash Choudhry
1Department of Haematology, IRCH Building 1st Floor, All India Institute of Medical Sciences, 110 029, New Delhi, Ansari Nagar, India.
Abstract:
Intron 1 and 22 inversions were looked for in 80 severe haemophilia A patients in India using PCR and multiplex Long-Distance Subcycling-PCR, respectively. Intron 1 inversion was seen in 3 (3.75%) and intron 22 inversion was seen in 35 (43.75%) patients. Of severe haemophilics, 47.5% had either of these inversions. It is thus suggested that screening for inversions may be the first step in genetic testing of Indian haemophilics.
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