Isolation of chromosome-21-specific DNA probes and their use in the analysis of nondisjunction in Down syndrome
dc.contributor.author | Connor, J. M. | en_US |
dc.contributor.author | Ferguson-Smith, M. A. | en_US |
dc.contributor.author | Galt, J. | en_US |
dc.contributor.author | Boyd, E. | en_US |
dc.date.accessioned | 2006-09-11T19:12:15Z | |
dc.date.available | 2006-09-11T19:12:15Z | |
dc.date.issued | 1989-01 | en_US |
dc.identifier.citation | Galt, J.; Boyd, E.; Connor, J. M.; Ferguson-Smith, M. A.; (1989). "Isolation of chromosome-21-specific DNA probes and their use in the analysis of nondisjunction in Down syndrome." Human Genetics 81(2): 113-119. <http://hdl.handle.net/2027.42/47624> | en_US |
dc.identifier.issn | 0340-6717 | en_US |
dc.identifier.issn | 1432-1203 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/47624 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=2563248&dopt=citation | en_US |
dc.description.abstract | Thirteen single-copy, chromosome-21-specific DNA probes were isolated from a recombinant library made from flow-sorted chromosome 21 DNA and regionally mapped using a panel of somatic cell hybrids. Five probes mapped in the 21q21-q22.1 region, six to the 21q22.1-qter region, and one to each of the regions 21q22.1-q22.2 and 21q22.3. Two of these probes, one of which maps in the critical region for Down syndrome, have recently been shown to be expressed at high levels in Down syndrome brain tissue (Stefani et al. 1988). Following preliminary screening for restriction fragment lenght polymorphisms (RFLPs), five polymorphisms were discovered with four of the chromosome 21 DNA probes. A frequent Msp I polymorphism detected by one of the probes was used in conjunction with four previously described polymorphic chromosome 21 probes to analyse the origin of nondisjunction in 33 families with a child or fetus with trisomy 21. The parental origin of the additional chromosome 21 was determined in 12 cases: in 9 (75%) of these it was derived from the mother and in the other 3 cases (25%) it was of paternal origin. Cytogenetic analysis of Q-banding heteromorphisms was informative in three of five families tested, and in each case the RFLP results were confirmed. The meiotic stage of nondisjunction was defined with confidence in five families, the results being obtained with pericentromeric RFLP or cytogenetic markers. Recombination between two nondisjoined chromosomes was demonstrated in one family and is consistent with the view that a lack of recombination between chromosome 21 homologues or failure of their conjunction is not the invariable cause of trisomy 21. | en_US |
dc.format.extent | 698807 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Springer-Verlag | en_US |
dc.subject.other | Biomedicine | en_US |
dc.subject.other | Internal Medicine | en_US |
dc.subject.other | Metabolic Diseases | en_US |
dc.subject.other | Human Genetics | en_US |
dc.subject.other | Molecular Medicine | en_US |
dc.title | Isolation of chromosome-21-specific DNA probes and their use in the analysis of nondisjunction in Down syndrome | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Molecular, Cellular and Developmental Biology | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbsecondlevel | Biological Chemistry | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Duncan Guthrie Institute of Medical Genetics, University of Glasgow, Yorkhill Hospital, G3 8SJ, Glasgow, UK; Howard Hughes Medical Institute, University of Michigan, Medical School, Room 3520, MSRB I, 1150 West Medical Center Drive, 48109, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationother | Pathology Department, University of Cambridge, Tennis Court Road, CB2 1QP, Cambridge, UK | en_US |
dc.contributor.affiliationother | Duncan Guthrie Institute of Medical Genetics, University of Glasgow, Yorkhill Hospital, G3 8SJ, Glasgow, UK | en_US |
dc.contributor.affiliationother | Duncan Guthrie Institute of Medical Genetics, University of Glasgow, Yorkhill Hospital, G3 8SJ, Glasgow, UK | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 2563248 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/47624/1/439_2004_Article_BF00293885.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/BF00293885 | en_US |
dc.identifier.source | Human Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
Files in this item
Remediation of Harmful Language
The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.
Accessibility
If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.