title: Mutation reports: intron 1 and 22 inversions in Indian haemophilics.
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.
authors.affiliation: Department of Haematology, IRCH Building 1st Floor, All India Institute of Medical Sciences, 110 029, New Delhi, Ansari Nagar, India.
authors.forename: Rafeeq
authors.initials: R
authors.lastname: Ahmed
authors.forename: M
authors.initials: M
authors.lastname: Kannan
authors.forename: Ved Prakash
authors.initials: VP
authors.lastname: Choudhry
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
mesh_terms: 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
chemical_list: D001323:Autoantibodies; D005169:Factor VIII