Molecular characterization of haemophilia A in southern Chinese.

Article Details


Chan V, Pang A, Chan TP, Chan VW, Chan TK

Molecular characterization of haemophilia A in southern Chinese.

Br J Haematol. 1996 May;93(2):451-6.

PubMed ID
8639447 [ View in PubMed

41 unrelated southern Chinese haemophilia A patients were studied. The 5' promoter region, all 26 exons, their immediate 5' and 3' flanking splice junctions and the 3' untranslated region of the FVIII gene were amplified (including 16 different segments of exon 14) using GC-clamped primers. The GC-clamped PCR products were screened by denaturing gradient gel electrophoresis (DGGE) and fragments showing an abnormal migration pattern were sequenced. 17 mutations were identified, of which four were splicing defects, involving the first 1-6 nucleotide (nt) in the intervening sequences (IVS), six missense mutations, three nonsense mutations and four frameshift mutations. 14 other patients carried the type 1 inversion, affecting the distal copy of the FSA gene at the telomere of the X chromosome and the same gene in intron 22 of the FVIII gene. All the mothers studied (12/14) were carriers of the inversion. Two of these patients with inversion also have a co-existing missense mutation. In most cases the clinical severity of the disease corresponds to the genotype.

DrugBank Data that Cites this Article

NameUniProt ID
Coagulation factor VIIIP00451Details