Analysis of 17p11.2 chromosome region rearrangements in CMT1 patients from Ukraine
Affiliations
- PMID: 19663313
Item in Clipboard
Analysis of 17p11.2 chromosome region rearrangements in CMT1 patients from Ukraine
Tsitol Genet.
2009 Jan-Feb.
Free article
Abstract
Two intercomplementary methods of 17p11.2 duplication/deletion identification have been elaborated: STR allelic variants analysis and direct PMP22 gene dosage measuring by means of quantitative Real- Time PCR. It has been carried out detection and analysis of 17p11.2 chromosome region rearrangements in CMT1 patients from Ukraine. It has been registered the high level of de novo cases with 17p11.2-duplication. It has been shown the 17p11.2 chromosome region duplication/deletion association with CMT1A and HNPP clinical phenotypes which may be used in differential diagnosis of this type of CMT polyneuropathy.
Similar articles
-
[Study of the duplication of 17p11.2-12 chromosome region in the patients with hereditary motor and sensory neuropathy type 1A].Tsitol Genet. 2003 Nov-Dec;37(6):55-9. Tsitol Genet. 2003. PMID: 15067947 Ukrainian.
-
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.Eur J Hum Genet. 2003 Feb;11(2):170-8. doi: 10.1038/sj.ejhg.5200920. Eur J Hum Genet. 2003. PMID: 12634865
-
Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies.J Peripher Nerv Syst. 1999;4(2):117-22. J Peripher Nerv Syst. 1999. PMID: 10442687
-
Overview of hereditary neuropathy with liability to pressure palsies.Ann N Y Acad Sci. 1999 Sep 14;883:14-21. Ann N Y Acad Sci. 1999. PMID: 10586225 Review.
-
Charcot-Marie-Tooth disease and related inherited neuropathies.Medicine (Baltimore). 1996 Sep;75(5):233-50. doi: 10.1097/00005792-199609000-00001. Medicine (Baltimore). 1996. PMID: 8862346 Review.
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
