Summary
Quantitative red cell adenylate kinase (AK-1) assay has been used in 8 patients with partial duplication or deletion of chromosome 9 in an attempt to find the precise intrachromosomal location of the structural gene locus. All regions of chromosome 9 are represented in abnormal dosage in at least one patient. A 43% increase in AK-1 activity was found to be associated with duplication of the terminal band of the long arm of chromosome 9. Duplication of all other parts of chromosome 9 were associated with normal enzyme activity. These findings not only confirm the assignment of the AK-1 locus to chromosome 9 made previously in somatic cell hybrids, but suggest a more precise assignment to region 9q33→qter. This places the ABO: Np-1: AK-1 linkage group at the distal end of the long arm of chromosome 9.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Allerdice, P. W., Tedesco, T. A.: Localisation of human gene for galactose-1-phosphate uridyltransferase. Lancet 1975 II, 39
Brandt, N. J., Frøland, A., Mikkelsen, M., Nielsen, A., Tolstrup, N.: Galactosaemia locus and the Down's syndrome chromosome. Lancet 1963 II, 700–703
Fenger, K., Sørensen, S. A.: Evaluation of a possible sex difference in recombination for the ABO-AK linkage. Amer. J. hum. Genet. 27, 784–788 (1975)
Ferguson-Smith, M. A., Aitken, D.A.: Evidence for the regional assignment of red cell adenylate kinase structural gene locus to the long arm of chromosome 9 by gene dosage studies. Baltimore Conference (1975): Third International Workshop on Human Gene Mapping. Birth Defects: Original Article Series (in press)
Ferguson-Smith, M. A., Boyd, E., McAinsh, W. M.: In preparation
Ferguson-Smith, M. A., Boyd, E., McLaurin, J. C.: In preparation
Ferguson-Smith, M. A., Boyd, E., Patrick, M. J.: In preparation
Ferguson-Smith, M. A., Boyd, E., Ruthven, I. A.: In preparation
Ferguson-Smith, M. A., Ellis, P. M., Mutchinick, O., Glen, K. P., Cote, G. B., Edwards, J. H.: Centromeric linkage. Rotterdam Conference: Second International Workshop on Human Gene Mapping. Birth Defects, Original Article Series XI, 3, 130–137 (1974)
Ferguson-Smith, M. A., Newman, B. F., Ellis, P. M., Thomson, D. M. G., Riley, I. D.: Assignment by deletion of human red cell acid phosphtase gene locus to the short arm of chromosome 2. Nature (Lond.) New Biol, 243, 271–274 (1973)
Fildes, R. A., Harris, H.: Genetically determined variation of adenylate kinase in man. Nature (Lond.) 209, 261–263 (1966)
Frants, R. R., Eriksson, A. W., Jongbloet, P. H., Hamers, A. J.: Superoxide dismutase in Down syndrome. Lancet 1975 II, 42–43
magenis, R. E., Koler, R. D., Lovrien, E., Bigley, R. H., Duval, M. C., Overton, K. M.: Gene dosage: evidence for assignment of erythrocyte acid phosphatase locus to chromosome 2. Proc. nat. Acad. Sci. (Wash) 72, 4526–4530 (1975)
Mayeda, K., Weiss, L., Lindahl, R., Dully, M.: Localisation of the human lactate dehydrogenase B gene on the short arm of chromosome 12. Amer. J. hum. Gene. 26, 59–64 (1974)
Povey, S., Slaughter, C. A., Wilson, D. E., Gormley, I. P., Buckton, K. E., Perry, P., Bobrow, M.: Evidence for the assignment of the loci AK1, AK3, and Acons to chromosome 9 in man. Ann. hum. Genet. 39, 413 (1976)
Povey, S., Swallow, D. M., Bobrow, M., Craig, I., Van Heyningen, V.: Probable assignment of the locus determining human red cell acid phosphatase ACP 1 to chromosome 2 using somatic cell hybrids. Ann. hum. Genet. 38, 1–5 (1974)
Rapley, S., Harris, H.: Red cell adenylate kinase activity in AK1 and AK2-1 phenotypes. Ann. hum. Genet. 33, 361–364 (1970)
Rapley, S., Robson, E. B., Harris, H., Smith, S. M.: Data on the incidence, segregation and linkage relations of the adenylate kinase (AK) polymorphism. Ann. hum. Genet. 31, 237–242 (1967)
Rethoré, M. O., Kaplan, J. C., Junien, C., Cruveiller, J., Dutrillaux, B., Aurias, A., Carpentier, S., Lafourcade, J., Lejeune, J.: Augmentation de l'activité de la LDH-B chez un garçon trisomique 12p par malségrégation d'une translocation maternelle t(12;14)(q12;p11). Ann. Génét. 18, 81–87 (1975)
Schleutermann, D. A., Bias, W. B., Murdoch, J. L., McKusick, V. A.: Linkage of the loci for the nail-patella syndrome and adenylate kinase. Amer. J. hum. Genet. 21, 606–630 (1969)
Sinet, P. M., Allard, D., Lejeune, J., Jérôme, H.: Augmentation d'activité de la superoxyde dismutase erythrocytaire dans la trisomie pour le chromosome 21. C.R. Acad. Sci. (Paris) 278, 3267–3270 (1974)
Sinet, P. M., Couturier, J., Dutrillaux, B., Poissonnier, M., Raoul, O., Rethoré, M. O., Allard, D., Lejeune, J., Jérôme, H.: Trisomie 21 et superoxyde dismutase 1 (IPO-A): tentative de localisation sur la sous bande 21q22.1. Exp. Cell Res. 97, 47–55 (1976)
Sobel, R. S., Tiger, A., Gerald, P. S.: A second family with the nail-patella allele and the adenylate kinase-2 allele in coupling. Amer. J. hum. Genet. 23, 146–149 (1971)
Tenconi, R., Baccichetti, C., Anglani, F., Pellegrino, P. A., Kaplan, J. C., Junien, C.: Partial deletion of the short arm of chromosome 12 (p11p13). Report of a case. Ann. Génét 18, 95–98 (1975)
Turleau, C., Grouchy, J. de, Chavin-Colin, F., Roubin, M., Brissaud, P. E., Repesse, G., Safar, A., Borniche, P.: Partial trisomy 9q: a new syndrome. Humangenetik 29, 233–241 (1975a)
Turleau, C., Grouchy, J. de, Roubin, M., Chavin-Colin, F., Cachin, O.: Trisomie 9p pure 47,XX,+del(9)(q11). Découverte d'une cellule 46,XY,del(9)(q11) chez le père. Ann. Génét. 18, 125–129 (1975b)
Van Cong, N., Weil, D., Finaz, C.,Cochet, C., Rebourcet, R., Grouchy, J. de, Frézal, J.: Assignment of the ABO-Np-AK1 linkage group on chromosome C.9 using man-hamster hybrids. Baltimore Conference (1975). Third International Workshop on Human Gene Mapping. Birth Defects: Original Article Series (in press)
Westerveld, A., Jongsma, A. P. M., Meera Khan, P., Someren, H. van, Bootsma, D.: Assignment of the AK1-Np-AB0 linkage group to chromosome 9. Proc. nat. Acad. Sci. (Wash.) (in press, 1976)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Ferguson-Smith, M.A., Aitken, D.A., Turleau, C. et al. Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34. Hum Genet 34, 35–43 (1976). https://doi.org/10.1007/BF00284432
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00284432