Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9
- 1 November 1984
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 19 (3), 539-543
- https://doi.org/10.1002/ajmg.1320190316
Abstract
A newborn male was diagnosed as having a duplication of distal 9p material by GTG banding analysis. Gene dose studies for galactose-1-phosphate uridyl transferase (GALT) were performed on the patient, his mother (the balanced translocation carrier), a 3-year-old 47,XY + 9p male control, a 30-year-old woman with mosaic trisomy 9p, a newborn female control infant with complete trisomy 9, and age-matched chromosomally normal control individuals. The findings support previous evidence that the GALT locus is at band p13 of chromosome 9.Keywords
This publication has 7 references indexed in Scilit:
- Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determinationHuman Genetics, 1981
- Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen→9p22Annals of Human Genetics, 1980
- Confirmation of the assignment of the gene for galactose-1-phosphate uridylyltransferase (E.C. 2.7.7.12) to human chromosome 9Cytogenetic and Genome Research, 1979
- Report of the committee on the genetic constitution of chromosomes 7, 8, and 9Cytogenetic and Genome Research, 1979
- Improved technique for electrophoresis of human galactose-1-P uridyl transferase (EC 2.7.7.12)Human Genetics, 1977
- A RAPID BANDING TECHNIQUE FOR HUMAN CHROMOSOMESThe Lancet, 1971
- Improved method for measuring galactose-1-phosphate uridyl transferase activity of erythrocytesClinica Chimica Acta; International Journal of Clinical Chemistry, 1966