Abstract
An unusual blood group inheritance, that is, a phenotype O child from AB X O parents, was found in a Japanese family. Since two other children from the parents are blood type B, this is not a case of Cis-AB inheritance. The mother is not blood A/B chimera, and normal levels of blood group N-acetylgalactosaminyltransferase (A-enzyme) and galactosyltransferase (B-enzyme) were detected in her plasma. Therefore, the mother is genetically true AB heterozygous. The two sons with phenotype B had normal levels of plasma B-enzyme, but had no A-enzyme, and the father and the daughter with phenotype O had neither A- nor B-enzyme in their plasma. The analyses of 24 genetic marker systems indicated that the O daughter was a true child of the parents. The affirmative probability of parentage on the O daughter was calculated to be .9999999917 by Bayes' theorem. We concluded that the genotype of the O daughter was not the usual 00, and that this rare O expression might be due to a new structural mutation or a deletion in either maternal A or B gene during oogenesis.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- DODGE J. T., MITCHELL C., HANAHAN D. J. The preparation and chemical characteristics of hemoglobin-free ghosts of human erythrocytes. Arch Biochem Biophys. 1963 Jan;100:119–130. doi: 10.1016/0003-9861(63)90042-0. [DOI] [PubMed] [Google Scholar]
- Fujii H., Yoshida A. Multiple components of blood group A and B antigens in human erythrocyte membranes and their difference between A1 and A2 status. Proc Natl Acad Sci U S A. 1980 May;77(5):2951–2954. doi: 10.1073/pnas.77.5.2951. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hearn V. M., Smith Z. G., Watkins W. M. An a-N-acetyl-D-galactosaminyltransferase associated with the human blood-group A character. Biochem J. 1968 Sep;109(2):315–317. doi: 10.1042/bj1090315. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Nagai M., Davè V., Kaplan B. E., Yoshida A. Human blood group glycosyltransferases. I. Purification of n-acetylgalactosaminyltransferase. J Biol Chem. 1978 Jan 25;253(2):377–379. [PubMed] [Google Scholar]
- Niikawa N., Kajii T. Sequential Q- and Acridine orange-marker technique. Humangenetik. 1975 Oct 20;30(1):83–90. doi: 10.1007/BF00273636. [DOI] [PubMed] [Google Scholar]
- Race C., Ziderman D., Watkins W. M. An alpha-d-galactosyltransferase associated with the blood-group B character. Biochem J. 1968 May;107(5):733–735. doi: 10.1042/bj1070733. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Reviron J., Jacquet A., Salmon C. Un exemple de chromosome "CIS A1B". Etude immunologique et génétique du phénotype induit. Nouv Rev Fr Hematol. 1968 May-Jun;8(3):323–338. [PubMed] [Google Scholar]
- Schenkel-Brunner H., Tuppy H. Enzymatic conversion of human O into A erythrocytes and of B into AB erythrocytes. Nature. 1969 Sep 20;223(5212):1272–1273. doi: 10.1038/2231272a0. [DOI] [PubMed] [Google Scholar]
- Schenkel-Brunner H., Tuppy H. Enzymes from human gastric mucosa conferring blood-group A and B specificities upon erythrocytes. Eur J Biochem. 1970 Dec;17(2):218–222. doi: 10.1111/j.1432-1033.1970.tb01156.x. [DOI] [PubMed] [Google Scholar]
- Yamaguchi H., Okubo Y., Tanaka M. "Cis AB" bloods found in Japanese families. Jinrui Idengaku Zasshi. 1970 Dec;15(3):198–215. [PubMed] [Google Scholar]
- Yoshida A. Identification of genotype of blood group A and B. Blood. 1980 Jan;55(1):119–123. [PubMed] [Google Scholar]
- Yoshida A., Yamaguchi H., Okubo Y. Genetic mechanism of Cis-AB inheritance. II. Cases associated with structural mutation of blood group glycosyltransferase. Am J Hum Genet. 1980 Sep;32(5):645–650. [PMC free article] [PubMed] [Google Scholar]
- Yoshida A., Yamaguchi H., Okubo Y. Genetic mechanism of cis-AB inheritance. I. A case associated with unequal chromosomal crossing over. Am J Hum Genet. 1980 May;32(3):332–338. [PMC free article] [PubMed] [Google Scholar]
- Yoshida A., Yamaguchi Y. F., Davé V. Immunologic homology of human blood group glycosyltransferases and genetic background of blood group (ABO) determination. Blood. 1979 Aug;54(2):344–350. [PubMed] [Google Scholar]