Thromb Haemost 1998; 80(02): 211-213
DOI: 10.1055/s-0037-1615173
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A Founder Effect Is Proposed for Factor XIII B Subunit Deficiency Caused by the Insertion of Triplet AAC in Exon III Encoding the Second Sushi Domain

Masayoshi Souri
1  Department of Molecular Pathological Biology and Biochemistry, Yamagata University School of Medicine, Yamagata, Japan
,
Tomonori Izumi
1  Department of Molecular Pathological Biology and Biochemistry, Yamagata University School of Medicine, Yamagata, Japan
,
Yoichiro Higashi
1  Department of Molecular Pathological Biology and Biochemistry, Yamagata University School of Medicine, Yamagata, Japan
,
Antonio Girolami*
,
Akitada Ichinose
1  Department of Molecular Pathological Biology and Biochemistry, Yamagata University School of Medicine, Yamagata, Japan
› Author Affiliations
Further Information

Publication History

Received 20 January 1998

Accepted after revision 21 April 1998

Publication Date:
08 December 2017 (online)

Summary

We previously concluded that genetic defects in the B subunit of factor XIII were the basis for former Type I deficiency (i.e. factor XIII B subunit deficiency). When we examined an Italian patient with the disease at the DNA level, restriction digestion and sequencing analyses of amplified DNAs revealed that the proband and her family members possessed an AAC insertion within the codon for Tyr-80 in exon III in the gene for the B subunit, a nucleotide polymorphism (A-G) in its 3’-noncoding region in exon XII, and a short tandem repeat polymorphism of (TTTA)9 in the 3’-flanking region. These mutations and 3’-polymorphisms were also identified in another Italian family reported in a previous study (10), suggesting that a founder effect is responsible for factor XIII B subunit deficiency in Italians.

* Institute of Medical Semiotics, University of Padua Medical School, Padua, Italy