Elucidation of an unbalanced chromosome translocation by gene dosage studies

A chromosome abnormality, 46, XY, lp +, was detected in cultured amniotic fluid cells. The chromosomes of both parents were normal and it was impossible to recognise the extra chromosomal material using current banding techniques. The activity of acid a‐glucosidase was found to be consistently higher than controls whereas activity of several other lysosomal enzymes, galactokinase and thymidine kinase was not. The results suggest that the extra material is that part of the long arm of chromosome 17 bearing the gene for acid a‐glucosidase but not the genes for galactokinase and thymidine kinase. This would narrow the assignment of the acid α‐glucosidase locus to 17q2 2–17qter.

[1]  A. Wrede,et al.  [Prenatal diagnosis of galactosemia]. , 1981, Ginekologia polska.

[2]  P. Cook.  Human Gene Mapping 5 , 1981 .

[3]  G. Gimelli,et al.  Triplex gene dosage effect for β-glucronidase and possible assignment to band q22 in a partial duplication 7q , 1981, Human Genetics.

[4]  D. Broadhead,et al.  Low arylsulphatase A activity in a family without metachromatic leukodystrophy , 1978, Clinical genetics.

[5]  J. Butterworth,et al.  Diagnosis of Pompe's disease in cultured skin fibroblasts and primary amniotic fluid cells using 4-methylumbelliferyl-alpha-D-glucopyranoside as substrate. , 1977, Clinica chimica acta; international journal of clinical chemistry.

[6]  E. Young,et al.  Variability of acid hydrolase activities in cultured skin fibroblasts and amniotic fluid cells. , 1975, Journal of medical genetics.

[7]  D. Weil,et al.  A study of hexosaminidases in interspecific hybrids and in GM2 gangliosidosis with a discussion on their genetic control , 1975, Annals of human genetics.

[8]  R. Kucherlapati,et al.  Assignment of the gene for galactokinase to human chromosome 17 and its regional localisation to band q21-22 , 1974, Nature.

[9]  G. Sutherland,et al.  Lysosomal enzyme levels in human amniotic fluid cells in tissue culture. 3. Beta-glucuronidase, N-acetyl-beta-D-glucosaminidase, alpha-mannosidase and acid phosphatase. , 1974, Clinical genetics.

[10]  G. Sutherland,et al.  Lysosomal enzymes of cultured amniotic fluid cells. , 1973, Clinica chimica acta; international journal of clinical chemistry.

[11]  G. Sutherland,et al.  Culture of Cells from the Urine of Newborn Children , 1972, Nature.

[12]  B. Migeon,et al.  Human Thymidine Kinase Gene Locus: Assignment to Chromosome 17 in a Hybrid of Man and Mouse Cells , 1971, Science.

[13]  J. Heremans,et al.  Further studies on low molecular weight proteins common to cerebrospinal fluid and urine , 1967 .

[14]  K. S. Dodgson,et al.  The assay of arylsulphatases A and B in human urine. , 1959, Clinica chimica acta; international journal of clinical chemistry.

[15]  O. H. Lowry,et al.  Protein measurement with the Folin phenol reagent. , 1951, The Journal of biological chemistry.