Carrier detection in Japanese hemophilia A by use of three intragenic and two extragenic factor VIII DNA probes: A study of 24 kindreds

K. Suehiro, M. Tanimoto, M. Hamaguchi, T. Kojima, J. Takamatsu, K. Ogata, T. Kamiya, H. Saito

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

The three factor VIII intragenic restriction fragment length polymorphisms (RFLPs), BcII, XbaI, and BgII, and the two extragenic RFLPs, BgIII/DX13 and TaqI/St14, were analyzed in 60 normal Japanese subjects and 24 families with hemophilia A. The allele frequencies were determined and the extent of linkage disequilibrium among the polymorphisms was assessed. In contrast to intragenic RFLPs of the factor IX gene, intragenic and extragenic RFLPs of the factor VIII gene in Japanese were similar to those observed in whites. As in whites, marked linkage disequilibrium severely compromised the value of the BgII RFLP. The combination of the BcII, XbaI, and TaqI/St14 RFLPs gave 100% carrier detection in the hemophilia A families analyzed.

Original languageEnglish
Pages (from-to)314-318
Number of pages5
JournalJournal of Laboratory and Clinical Medicine
Volume112
Issue number3
Publication statusPublished - 1988
Externally publishedYes

Fingerprint

DNA Probes
Factor VIII
Hemophilia A
Polymorphism
Restriction Fragment Length Polymorphisms
Linkage Disequilibrium
Genes
Factor IX
Gene Frequency

ASJC Scopus subject areas

  • Medicine(all)
  • Pathology and Forensic Medicine

Cite this

Suehiro, K., Tanimoto, M., Hamaguchi, M., Kojima, T., Takamatsu, J., Ogata, K., ... Saito, H. (1988). Carrier detection in Japanese hemophilia A by use of three intragenic and two extragenic factor VIII DNA probes: A study of 24 kindreds. Journal of Laboratory and Clinical Medicine, 112(3), 314-318.

Carrier detection in Japanese hemophilia A by use of three intragenic and two extragenic factor VIII DNA probes : A study of 24 kindreds. / Suehiro, K.; Tanimoto, M.; Hamaguchi, M.; Kojima, T.; Takamatsu, J.; Ogata, K.; Kamiya, T.; Saito, H.

In: Journal of Laboratory and Clinical Medicine, Vol. 112, No. 3, 1988, p. 314-318.

Research output: Contribution to journalArticle

Suehiro, K, Tanimoto, M, Hamaguchi, M, Kojima, T, Takamatsu, J, Ogata, K, Kamiya, T & Saito, H 1988, 'Carrier detection in Japanese hemophilia A by use of three intragenic and two extragenic factor VIII DNA probes: A study of 24 kindreds', Journal of Laboratory and Clinical Medicine, vol. 112, no. 3, pp. 314-318.
Suehiro, K. ; Tanimoto, M. ; Hamaguchi, M. ; Kojima, T. ; Takamatsu, J. ; Ogata, K. ; Kamiya, T. ; Saito, H. / Carrier detection in Japanese hemophilia A by use of three intragenic and two extragenic factor VIII DNA probes : A study of 24 kindreds. In: Journal of Laboratory and Clinical Medicine. 1988 ; Vol. 112, No. 3. pp. 314-318.
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AU - Hamaguchi, M.

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