scholarly journals Multiplex Detection and Genotyping of Point Mutations Involved in Charcot-Marie-Tooth Disease Using a Hairpin Microarray-Based Assay

2009 ◽  
Vol 2009 ◽  
pp. 1-5 ◽  
Author(s):  
Yasser Baaj ◽  
Corinne Magdelaine ◽  
Virginie Ubertelli ◽  
Christophe Valat ◽  
Yoanne Mousseau ◽  
...  
Keyword(s):  
Simultaneous Detection ◽  
Point Mutations ◽  
Specific Method ◽  
Healthy Individuals ◽  
Single Nucleotide ◽  
Stem Loop ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Stem Loop Structure ◽  
Tooth Disease

We previously developed a highly specific method for detecting SNPs with a microarray-based system using stem-loop probes. In this paper we demonstrate that coupling a multiplexing procedure with our microarray method is possible for the simultaneous detection and genotyping of four point mutations, in three different genes, involved in Charcot-Marie-Tooth disease. DNA from healthy individuals and patients was amplified, labeled with Cy3 by multiplex PCR; and hybridized to microarrays. Spot signal intensities were 18 to 74 times greater for perfect matches than for mismatched target sequences differing by a single nucleotide (discrimination ratio) for “homozygous” DNA from healthy individuals. “Heterozygous” mutant DNA samples gave signal intensity ratios close to 1 at the positions of the mutations as expected. Genotyping by this method was therefore reliable. This system now combines the principle of highly specific genotyping based on stem-loop structure probes with the advantages of multiplex analysis.

Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations

1995 ◽  
Vol 90 (6) ◽  
pp. 645-649 ◽  
Author(s):  
A. A. W. M. Gabre�ls-Festen ◽  
P. A. Bolhuis ◽  
J. E. Hoogendijk ◽  
L. J. Valentijn ◽  
E. J. H. M. Eshuis ◽  
...  
Keyword(s):  
Point Mutations ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease ◽  
Morphological Phenotype

Cochlear implantation in a patient with deafness induced by Charcot–Marie–Tooth disease (hereditary motor and sensory neuropathies)

2006 ◽  
Vol 120 (6) ◽  
pp. 508-510 ◽  
Author(s):  
J T F Postelmans ◽  
R J Stokroos
Keyword(s):  
Cochlear Implantation ◽  
Transmembrane Domain ◽  
Point Mutations ◽  
Auditory Neuropathy ◽  
Heterogeneous Group ◽  
Charcot Marie Tooth ◽  
Hereditary Motor ◽  
Charcot Marie Tooth Disease ◽  
Close Proximity ◽  
Tooth Disease

Charcot–Marie–Tooth disease (CMT), also named hereditary motor and sensory neuropathies (HMSN), comprises a clinically and genetically heterogeneous group of disorders affecting the peripheral nervous system. Deafness induced by CMT is clinically distinct among the genetically heterogeneous group of CMT disorders. Deafness in CMT patients is associated with point mutations or deletions in the transmembrane domain in the peripheral myelin gene (PMP) 22, which are in close proximity to the extracellular component of this gene. We present a patient with deafness induced by CMT type 1A, undergoing cochlear implantation. Prior investigations showed good results due to replacing a synchronous impulse by means of cochlear implantation in patients with auditory neuropathy.

Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A

1992 ◽  
Vol 2 (4) ◽  
pp. 288-291 ◽  
Author(s):  
Linda J. Valentijn ◽  
Frank Baas ◽  
Ruud A. Wolterman ◽  
Jessica E. Hoogendijk ◽  
Norbert H.A. van den Bosch ◽  
...  
Keyword(s):  
Point Mutations ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Identical Point ◽  
Tooth Disease

Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations

1995 ◽  
Vol 90 (6) ◽  
pp. 645-649 ◽  
Author(s):  
A. A. W. M. Gabre�ls-Festen ◽  
P. A. Bolhuis ◽  
J. E. Hoogendijk ◽  
L. J. Valentijn ◽  
E. J. H. M. Eshuis ◽  
...  
Keyword(s):  
Point Mutations ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease ◽  
Morphological Phenotype
Sign in / Sign up

Export Citation Format

Share Document