Abstract
Uniparental isodisomy is defined as the inheritance of two copies of the same parental chromosome and can result in defects when it produces homozygosity for a recessive mutation or in the presence of imprinting. We describe the detection of a chromosome 6 uniparental isodisomy in a 9 year old girl, discovered during a search for an HLA identical sib. HLA typing, erythrocyte phenotyping, and genotypes of microsatellite polymorphisms were compatible with a paternal isodisomy of chromosome 6, with normal biparental origin of the other chromosomes. Paternal cells were not responsive to the patient's cells in mixed lymphocyte cultures. This fortuitous detection of a chromosome 6 isodisomy suggests that cases of chromosome 6 UPD may not be deleterious and may therefore go undetected.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Abramowicz M. J., Andrien M., Dupont E., Dorchy H., Parma J., Duprez L., Ledley F. D., Courtens W., Vamos E. Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus. J Clin Invest. 1994 Jul;94(1):418–421. doi: 10.1172/JCI117339. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Beldjord C., Henry I., Bennani C., Vanhaeke D., Labie D. Uniparental disomy: a novel mechanism for thalassemia major. Blood. 1992 Jul 1;80(1):287–289. [PubMed] [Google Scholar]
- Cassidy S. B. Uniparental disomy and genomic imprinting as causes of human genetic disease. Environ Mol Mutagen. 1995;25 (Suppl 26):13–20. doi: 10.1002/em.2850250605. [DOI] [PubMed] [Google Scholar]
- Engel E. A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet. 1980;6(2):137–143. doi: 10.1002/ajmg.1320060207. [DOI] [PubMed] [Google Scholar]
- Ledbetter D. H., Engel E. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet. 1995;4(Spec No):1757–1764. doi: 10.1093/hmg/4.suppl_1.1757. [DOI] [PubMed] [Google Scholar]
- Temple I. K., James R. S., Crolla J. A., Sitch F. L., Jacobs P. A., Howell W. M., Betts P., Baum J. D., Shield J. P. An imprinted gene(s) for diabetes? Nat Genet. 1995 Feb;9(2):110–112. doi: 10.1038/ng0295-110. [DOI] [PubMed] [Google Scholar]
- Welch T. R., Beischel L. S., Choi E., Balakrishnan K., Bishof N. A. Uniparental isodisomy 6 associated with deficiency of the fourth component of complement. J Clin Invest. 1990 Aug;86(2):675–678. doi: 10.1172/JCI114760. [DOI] [PMC free article] [PubMed] [Google Scholar]
- ten Wolde S., Breedveld F. C., de Vries R. R., D'Amaro J., Rubenstein P., Schreuder G. M., Claas F. H., van Rood J. J. Influence of non-inherited maternal HLA antigens on occurrence of rheumatoid arthritis. Lancet. 1993 Jan 23;341(8839):200–202. doi: 10.1016/0140-6736(93)90065-o. [DOI] [PubMed] [Google Scholar]
- van den Berg-Loonen E. M., Savelkoul P., van Hooff H., van Eede P., Riesewijk A., Geraedts J. Uniparental maternal disomy 6 in a renal transplant patient. Hum Immunol. 1996 Jan;45(1):46–51. doi: 10.1016/0198-8859(95)00148-4. [DOI] [PubMed] [Google Scholar]