Summary
Genes encoding blood coagulation factors XII (F12) and XIII subunit A (F13A) have been shown to be localized in the distal 6p region. We studied gene dosage effects for F12 and F13A in a female case with a duplication-deficiency (partial monosomy for 6p2307→pter and trisomy for 6q25.1→qter) due to a maternal inversion of chromosome 6. Plasma levels of factor XII were reduced in the patient (46%) and her mother (42%), while that in her father (56%) was within the normal range. On the other hand, plasma levels of factor XIII were normal in the three individuals and the phenotype of factor XIII subunit A was type 1 in all the three. The low factor XII values in the patient and the mother can be best explained by a duplex gene dosage for F12 but with the involvement of a variant gene which results in F12 with a low activity and exists in the two individuals. These results suggested that the loci encoding F12 and F13A can be excluded from the region 6p2307→pter.
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Board, P.S. 1979. Genetic polymorphism of the A subunit of human coagulation factor XIII.Am. J. Hum. Genet. 31: 116–124.
de Grouchy, J., Veslot, J., Bonnette, J., and Roidot, M. 1968. A case of ?6p-chromosomal aberration.Am. J. Dis. Child. 115: 93–99.
Eiberg, H., Nielsen, L.S., and Mohr, J. 1984. Confirmation of F13A assignment and sequence information concerning F13A-HLA-GLO.Clin. Genet. 26: 385–388.
Ikeuchi, T. and Sasaki M. 1979. Accumulation of early mitotic cells in ethidium bromide-treated human lymphocytes cultures.Proc. Jpn. Acad. 55: 15–18.
Lam, L. U., and Olaisen, B. 1985. Report of the committee on the genetic constitution of chromosomes 5 and 6 (HGM 8).Cytogenet. Cell. Genet. 40: 128–155.
Morton, N.E., Lindsten, J., Iselius, L., and Yee, S. 1982. Data and theory for a revised chiasm map in man.Hum. Genet. 62: 266–270.
Niebuhr, E., Eiberg, H., and Schousboe, I. 1985. Localization of human F12, F13A and ACP1 (abstract).Cytogenet. Cell Genet. 40: 714.
Nishigaki, T., Omoto, K., and Juji, T. 1981. Genetic polymorphism of the A subunit of human coagulation factor XIII in Japanese.Jpn. J. Human Genet. 26: 237–241.
Olaisen, B., Gedde-Dahl, T., Jr., Teisberg, P., Thorsby, E., Siverts, A., Jonassen, R., and Wilhelmy, M.C. 1985. A structural locus for coagulation factor XIIIA (F13A) is located distal to the HLA region on chromosome 6p in man.Am. J. Hum. Genet. 37: 215–220.
Parr, C.W., Bagster, I.A., and Welch, S.G. 1977. Human red cell glyoxalase I polymorphism.Biochem. Genet. 15: 109–113.
Pearson, P.L., van der Kamp, J., and Veldtkamp, J. 1982. Reduced Hageman factor level in a 6p-patient (abstract).Cytogenet. Cell Genet. 32: 309.
Pfeiffer, R.A., Ott, R., Gilzenkrantz, S., and Alexandre, P. 1982. Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13(q34). Evidence from two cases with 46,XY,t(13;Y) (q34;q11).Hum. Genet. 62: 358–360.
Sirridge, M.S. and Shanon, R. 1983.Laboratory Evaluation of Hemostasis and Thrombosis, 3rd Ed., Lea and Febiger, Philadelphia, pp. 130–133.
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Narahara, K., Seno, Y., Nishibayashi, Y. et al. Gene dosage effects for coagulation factors XII (F12) and XIII subunit a (F13A) in a case with partial monosomy 6p resulting from a maternal pericentric inversion of chromosome 6. Jap J Human Genet 32, 305–310 (1987). https://doi.org/10.1007/BF01910286
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DOI: https://doi.org/10.1007/BF01910286
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