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

• Published in: Thrombosis and haemostasis Vol. 80; no. 2; p. 211
• Main Authors: Souri, M, Izumi, T, Higashi, Y, Girolami, A, Ichinose, A
• Format: Journal Article
• Language: English
• Published: Germany 01-08-1998
• Subjects: DNA Transposable Elements; Exons; Factor XIII Deficiency - genetics; Female; Founder Effect; Genetic Code; Genotype; Homozygote; Humans; Pedigree; Peptide Fragments - deficiency; Peptide Fragments - genetics; Protein Structure, Tertiary
• ISSN: 0340-6245
• DOI: 10.1055/s-0037-1615173

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 (TTTA9, 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.