APPLICATION OF HUMF13A01 (AAAG)(N) STR POLYMORPHISM TO THE GENETIC DIAGNOSIS OF COAGULATION-FACTOR-XIII DEFICIENCY

Deficiency of the A subunit of coagulation factor XIII causes a severe bleeding disorder requiring life long replacement therapy. The mutati ons causing A subunit deficiency appear to be very heterogeneous, and it is impractical to identify each mutation before genetic counselling or prenatal diagnosis can be attempted. In this study we have shown t hat a highly polymorphic short tandem repeat element, HUMF13A01 (AAAG) (n) that occurs in the 5' flanking sequence of the factor XIII A subun it gene, can be used to follow the segregation of deficiency causing m utations. We studied 6 families with factor XIII A subunit deficiency from 5 different ethnic groups. All parents were heterozygous for the repetitive element and therefore all the families were informative. Th e linked polymorphism was used to carry out the first prenatal diagnos is of factor XIII A subunit deficiency. The: analysis of this polymorp hism by the polymerase chain reaction is rapid, reliable, requires lit tle DNA and is ideal for the genetic analysis of factor XIII A subunit deficiency.