Section 6
Chapter 5,825

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

Ferguson-Smith, M.A.; Aitken, D.A.; Turleau, C.; de Grouchy, J.

Human Genetics 34(1): 35-43


ISSN/ISBN: 0340-6717
PMID: 184030
DOI: 10.1007/bf00284432
Accession: 005824761

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Quantitative red cell adenylate kinase (AK-1) assay was 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 1 patient. A 43% increase in AK-1 activity was 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. The assignment of the AK-1 locus to chromosome 9 made previously in somatic cell hybrids is confirmed and suggests a more precise assignment to region 9q33.fwdarw.qter. This places the ABO:Np-1[nail-patella locus]:AK-1 linkage group at the distal end of the long arm of chromosome 9.

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