Go to JCI Insight
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact
  • Clinical Research and Public Health
  • Current issue
  • Past issues
  • By specialty
    • COVID-19
    • Cardiology
    • Gastroenterology
    • Immunology
    • Metabolism
    • Nephrology
    • Neuroscience
    • Oncology
    • Pulmonology
    • Vascular biology
    • All ...
  • Videos
    • Conversations with Giants in Medicine
    • Video Abstracts
  • Reviews
    • View all reviews ...
    • Complement Biology and Therapeutics (May 2025)
    • Evolving insights into MASLD and MASH pathogenesis and treatment (Apr 2025)
    • Microbiome in Health and Disease (Feb 2025)
    • Substance Use Disorders (Oct 2024)
    • Clonal Hematopoiesis (Oct 2024)
    • Sex Differences in Medicine (Sep 2024)
    • Vascular Malformations (Apr 2024)
    • View all review series ...
  • Viewpoint
  • Collections
    • In-Press Preview
    • Clinical Research and Public Health
    • Research Letters
    • Letters to the Editor
    • Editorials
    • Commentaries
    • Editor's notes
    • Reviews
    • Viewpoints
    • 100th anniversary
    • Top read articles

  • Current issue
  • Past issues
  • Specialties
  • Reviews
  • Review series
  • Conversations with Giants in Medicine
  • Video Abstracts
  • In-Press Preview
  • Clinical Research and Public Health
  • Research Letters
  • Letters to the Editor
  • Editorials
  • Commentaries
  • Editor's notes
  • Reviews
  • Viewpoints
  • 100th anniversary
  • Top read articles
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact
Top
  • View PDF
  • Download citation information
  • Send a comment
  • Terms of use
  • Standard abbreviations
  • Need help? Email the journal
  • Top
  • Abstract
  • Version history
  • Article usage
  • Citations to this article

Advertisement

Research Article Free access | 10.1172/JCI115864

Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III.

T Kamura, T Okamura, M Murakawa, H Tsuda, T Teshima, T Shibuya, M Harada, and Y Niho

First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.

Find articles by Kamura, T. in: PubMed | Google Scholar

First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.

Find articles by Okamura, T. in: PubMed | Google Scholar

First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.

Find articles by Murakawa, M. in: PubMed | Google Scholar

First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.

Find articles by Tsuda, H. in: PubMed | Google Scholar

First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.

Find articles by Teshima, T. in: PubMed | Google Scholar

First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.

Find articles by Shibuya, T. in: PubMed | Google Scholar

First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.

Find articles by Harada, M. in: PubMed | Google Scholar

First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.

Find articles by Niho, Y. in: PubMed | Google Scholar

Published August 1, 1992 - More info

Published in Volume 90, Issue 2 on August 1, 1992
J Clin Invest. 1992;90(2):315–319. https://doi.org/10.1172/JCI115864.
© 1992 The American Society for Clinical Investigation
Published August 1, 1992 - Version history
View PDF
Abstract

A congenital deficiency of the coagulation Factor XIII A subunit (F XIII A) is a rare autosomal recessive disorder that is characterized by a life-long bleeding tendency complicated by a difficulty in healing. Thus far, no molecular genetic analysis of this disorder has been reported. In this study, we demonstrate the molecular abnormalities in a family with this disorder. We performed Northern blot analysis of peripheral blood monocytes obtained from the propositus and found a 4-kb single band of F XIII A mRNA whose size was identical with that of normal subjects. Exons II-XV, which encode all the amino acids, were individually amplified by a polymerase chain reaction (PCR). All PCR products from the propositus had lengths indistinguishable from those of the wild type on agarose gel, suggesting that this defect results from either a point mutation or a short deletion/insertion. The sequencing of F XIII A cDNA from the propositus revealed a deletion of the dinucleotide AG within the AGAG repeat at the position of 210 to 213. Concerning the genomic sequence, a deletion of dinucleotide AG was also demonstrated in the intron B-exon III boundary. This deletion appeared to cause a frameshift mutation making a new stop codon shortly thereafter, and leading to a deficiency of plasma F XIII A. The heterozygosity of the F XIII A deficiency in the patient's offspring was documented by the nucleotide sequences of their exon III.

Images.

Browse pages

Click on an image below to see the page. View PDF of the complete article

icon of scanned page 315
page 315
icon of scanned page 316
page 316
icon of scanned page 317
page 317
icon of scanned page 318
page 318
icon of scanned page 319
page 319
Version history
  • Version 1 (August 1, 1992): No description

Article tools

  • View PDF
  • Download citation information
  • Send a comment
  • Terms of use
  • Standard abbreviations
  • Need help? Email the journal

Metrics

  • Article usage
  • Citations to this article

Go to

  • Top
  • Abstract
  • Version history
Advertisement
Advertisement

Copyright © 2025 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

Sign up for email alerts