Mutation reports: intron 1 and 22 inversions in Indian haemophilics.
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.
Ahmed
Rafeeq
R
Department of Haematology, IRCH Building 1st Floor, All India Institute of Medical Sciences, 110 029, New Delhi, Ansari Nagar, India.
Kannan
M
M
Choudhry
Ved Prakash
VP
Saxena
Renu
R
D001323:Autoantibodies / Q000097:blood; D007446:Chromosome Inversion; D005169:Factor VIII / Q000032:analysis / Q000276:immunology; D006467:Hemophilia A / Q000175:diagnosis / Q000235:genetics*; D007194:India; D007438:Introns; D016133:Polymerase Chain Reaction
D001323:Autoantibodies; D005169:Factor VIII