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Thromb Haemost 1996; 76(06): 0879-0882
DOI: 10.1055/s-0038-1650679
Original Article
Schattauer GmbH Stuttgart

Application of HUMF13A01 (AAAG)n STR Polymorphism to the Genetic Diagnosis of Coagulation Factor XIII Deficiency

Sasichai Kangsadalampai
1   The Molecular Genetics Group, John Curtin School of Medical Research, Australian National University, Canberra, Australia
,
Marjorie Coggan
1   The Molecular Genetics Group, John Curtin School of Medical Research, Australian National University, Canberra, Australia
,
S Hande Çaglayan
2   The Department of Molecular Biology and Genetics, Bogazigi University, Istanbul, Turkey
,
Gülten Aktuglu
3   The Department of Hematology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
,
Philip G Board
1   The Molecular Genetics Group, John Curtin School of Medical Research, Australian National University, Canberra, Australia
› Author Affiliations
Further Information

Publication History

Received 19 February 1996

Accepted after resubmission 29 July 1996

Publication Date:
21 August 2018 (online)

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Summary

Deficiency of the A subunit of coagulation factor XIII causes a severe bleeding disorder requiring life long replacement therapy. The mutations 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 that a highly polymorphic short tandem repeat element, HUMF13A01 (AAAG)n that occurs in the 5’ flanking sequence of the factor XIII A subunit gene, can be used to follow the segregation of deficiency causing mutations. We studied 6 families with factor XIIIA subunit deficiency from 5 different ethnic groups. All parents were heterozygous for the repetitive element and therefore all the families were informative. The linked polymorphism was used to carry out the first prenatal diagnosis of factor XIII A subunit deficiency. The analysis of this polymorphism by the polymerase chain reaction is rapid, reliable, requires little DNA and is ideal for the genetic analysis of factor XIIIA subunit deficiency.

 

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