Human Genetics

, Volume 34, Issue 1, pp 35–43 | Cite as

Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34

  • M. A. Ferguson-Smith
  • D. A. Aitken
  • Catherine Turleau
  • J. de Grouchy
Original Investigations

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.

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References

  1. Allerdice, P. W., Tedesco, T. A.: Localisation of human gene for galactose-1-phosphate uridyltransferase. Lancet 1975 II, 39Google Scholar
  2. Brandt, N. J., Frøland, A., Mikkelsen, M., Nielsen, A., Tolstrup, N.: Galactosaemia locus and the Down's syndrome chromosome. Lancet 1963 II, 700–703Google Scholar
  3. 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)Google Scholar
  4. 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)Google Scholar
  5. Ferguson-Smith, M. A., Boyd, E., McAinsh, W. M.: In preparationGoogle Scholar
  6. Ferguson-Smith, M. A., Boyd, E., McLaurin, J. C.: In preparationGoogle Scholar
  7. Ferguson-Smith, M. A., Boyd, E., Patrick, M. J.: In preparationGoogle Scholar
  8. Ferguson-Smith, M. A., Boyd, E., Ruthven, I. A.: In preparationGoogle Scholar
  9. 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)Google Scholar
  10. 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)Google Scholar
  11. Fildes, R. A., Harris, H.: Genetically determined variation of adenylate kinase in man. Nature (Lond.) 209, 261–263 (1966)Google Scholar
  12. Frants, R. R., Eriksson, A. W., Jongbloet, P. H., Hamers, A. J.: Superoxide dismutase in Down syndrome. Lancet 1975 II, 42–43Google Scholar
  13. 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)Google Scholar
  14. 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)Google Scholar
  15. 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)Google Scholar
  16. 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)Google Scholar
  17. Rapley, S., Harris, H.: Red cell adenylate kinase activity in AK1 and AK2-1 phenotypes. Ann. hum. Genet. 33, 361–364 (1970)Google Scholar
  18. 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)Google Scholar
  19. 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)Google Scholar
  20. 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)Google Scholar
  21. 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)Google Scholar
  22. 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)Google Scholar
  23. 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)Google Scholar
  24. 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)Google Scholar
  25. 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)Google Scholar
  26. 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)Google Scholar
  27. 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)Google Scholar
  28. 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)Google Scholar

Copyright information

© Springer-Verlag 1976

Authors and Affiliations

  • M. A. Ferguson-Smith
    • 1
  • D. A. Aitken
    • 1
  • Catherine Turleau
    • 2
  • J. de Grouchy
    • 2
  1. 1.University Department of Medical GeneticsRoyal Hospital for Sick ChildrenGlasgowScotland
  2. 2.Clinique de Génétique MédicaleHôpital des Enfants MaladesParisFrance

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