HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification.

Abstract
Most people with Williams syndrome (WS) have a heterozygous 1.55 Mb deletion on chromosome 7q11.23. For diagnostic purposes, fluorescence in situ hybridisation (FISH) with commercial FISH probes is commonly used to detect this deletion. We investigated whether multiplex ligation-dependent probe amplification (MLPA) is a reliable alternative for FISH. The MLPA kit (SALSA P029) contains probes for eight genes in the WS critical region: FKBP6, FZD9, TBL2, STX1A, ELN, LIMK1, RFC2, and CYLN2. The experimental FISH assay that was used consists of four probes covering the WS critical region. A total number of 63 patients was tested; in 53 patients, a deletion was detected both with FISH and MLPA(P029), in 10 patients both techniques failed to demonstrate a deletion. In only one patient, a deletion was detected which was not previously detected by two commercial FISH probes. This patient appeared to carry a small, atypical deletion. We conclude that MLPA is a reliable technique to detect WS. Compared with FISH, MLPA is less time consuming and has the possibility to detect also smaller, atypical deletions and duplications in the WS critical region.
AuthorsJohanna M van Hagen, Hubertus J F M M Eussen, Ron van Schooten, Josef N van Der Geest, Gerardina C Lagers-van Haselen, Cokkie H Wouters, Chris I De Zeeuw, Johan J P Gille
JournalGenetic testing (Genet Test) Vol. 11 Issue 3 Pg. 321-7 ( 2007) ISSN: 1090-6576 [Print] United States
PMID17949295 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
Topics
  • Chromosomes, Human, Pair 7
  • Face (abnormalities)
  • Humans
  • In Situ Hybridization, Fluorescence (methods)
  • Nucleic Acid Amplification Techniques (methods)
  • Phenotype
  • Williams Syndrome (diagnosis, genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: