Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome.
- 1 May 1991
- journal article
- case report
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 88 (9) , 3767-3771
- https://doi.org/10.1073/pnas.88.9.3767
Abstract
The persistent Müllerian duct syndrome (PMDS) is characterized by the persistence of Müllerian derivatives, uterus and tubes, in otherwise normally virilized males. In a previous study, we showed that this syndrome is heterogeneous, with lack of production of anti-Müllerian hormone (AMH) by testicular tissue accounting for only some, AMH-negative, cases of this disorder. We have characterized the point mutation responsible for an AMH-negative PMDS in three siblings: a guanine to thymine transversion at position 2096 in the fifth exon changes a GAA triplet, coding for glutamic acid, to a TAA stop codon. The mutation could also be recognized, using the polymerase chain reaction, on RNA produced in trace amounts by a lymphoblastic cell line. The translation product, although undetectable in testicular tissue, could be visualized in culture medium of cells transfected with the mutant gene.Keywords
This publication has 34 references indexed in Scilit:
- Isolation and characterization of the translation product of a β‐globin gene nonsense mutation (β121 GAA→TAA)British Journal of Haematology, 1990
- A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motifNature, 1990
- Mutations in the catalytic domain of human coagulation factor IX: Rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behaviorGenomics, 1989
- Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA PolymeraseScience, 1988
- Mapping of the gene for anti-Müllerian hormone to the short arm of human chromosome 19Cytogenetic and Genome Research, 1987
- Linkage analysis of polymorphisms within the DNA fragment XJ cloned from the breakpoint of an X;21 translocation associated with X linked muscular dystrophy.Journal of Medical Genetics, 1986
- Isolation of the bovine and human genes for müllerian inhibiting substance and expression of the human gene in animal cellsCell, 1986
- THE MUTATION AND POLYMORPHISM OF THE HUMAN β-GLOBIN GENE AND ITS SURROUNDING DNAAnnual Review of Genetics, 1984
- Amplification and expression of sequences cotransfected with a modular dihydrofolate reductase complementary DNA geneJournal of Molecular Biology, 1982
- Isolation of biologically active ribonucleic acid from sources enriched in ribonucleaseBiochemistry, 1979