Regional Assignment of Genes for Human Esterase D and Retinoblastoma to Chromosome Band 13q14
- 30 May 1980
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 208 (4447), 1042-1044
- https://doi.org/10.1126/science.7375916
Abstract
The expression of human esterase D was evaluated quantitatively and qualitatively in five persons with partial deletions or duplications of chromosome 13. The results showed that the locus of this enzyme is at band 13q14. Deletion of this same band in other subjects has been found previously to indicate a predisposition to the development of retinoblastoma, which was present in the four individuals in this study who had partial deletions of chromosome 13. Because of this close synteny, esterase D evaluation should aid in the diagnosis and genetic counseling of retinoblastoma.Keywords
This publication has 9 references indexed in Scilit:
- Expression of esterase D and other gene markers in trisomy 13Human Genetics, 1979
- Retinoblastoma with 13q- Chromosomal Deletion Associated with Maternal Paracentric Inversion of 13qScience, 1979
- Evidence for a Null allele at the Esterase D (EC 3.1.1.1) locusHuman Genetics, 1979
- Partial trisomy of 13(pter?q12) due to 47,XY,+der(13),t(13;22)(q12;q13)matHuman Genetics, 1979
- Further family data on ESD and chromosome 13Cytogenetic and Genome Research, 1978
- The characterization of high-resolution G-banded chromosomes of manChromosoma, 1978
- Chromosomal anomalies in patients with retinoblastomaClinical Genetics, 1977
- Chromosome assignment of some human enzyme loci: mitochondrial malate dehydrogenase to 7, mannosephosphate isomerase and pyruvate kinase to 15 and probably, esterase D to 13Annals of Human Genetics, 1975
- Esterase D: a new human polymorphismAnnals of Human Genetics, 1973