PMP22

(redirected from CMT1A)
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PMP22

A gene on chromosome 17p12 that encodes an integral membrane protein which is a major component of myelin in the peripheral nervous system, and appears to be involved in growth regulation and myelinisation of the peripheral nervous system.

Molecular pathology
PMP22 mutations are linked to Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome and hereditary neuropathy with liability to pressure palsies.
References in periodicals archive ?
Diagnosis of the CMT1A duplication and HNPP deletion by interphase FISH: implications for testing in the cytogenetic laboratory.
1] Nonstandard abbreviations: CMT1A, Charcot-Marie-Tooth disease type 1A; HNPP, hereditary neuropathy with liability to pressure palsies; PMP22, peripheral myelin protein 22; TPA, tissue plasminogen activator; Ps, polymorphic standard; and WTs, wild-type standard.
1] Nonstandard abbreviations: SCA, spinocerebellar ataxia; CMT1A and CMTX, Charcot-Marie-Tooth disease, type 1A and type X; and Apo-E, apolipoprotein E4 genotyping.
The PMP22/NF1 ratios for CMT1A, unaffected, and HNPP samples were ~1.
We report the development of a rapid PCR-based relative DNA quantitation technique that allows the detection of duplications and deletions in a single reaction and overcomes many of the problems associated with the molecular diagnosis of CMT1A and HNPP.
DNA was extracted from blood samples of unrelated individuals in which the diagnosis of CMT1A (50 individuals) and HNPP (30 individuals) had been determined previously by PFGE (14).
Several methods are used to detect the CMT1A duplication, such as detection of a junction fragment by pulsed-field gel eletrophoresis (PFGE) [11] measurement of the dosage difference between restriction fragment length polymorphic (RFLP) alleles or analysis of polymorphic [(GT).
Through the detection of novel junction fragments from the recombinant CMT1A-REPs in CMT1A patients, a 3.
Genetic counselors called the UPenn laboratory to discuss the problem that they did not have access to prenatal CMT1A testing.
CMT1A testing is only the first in a list of tests for which the UPenn laboratory has received patent notices containing a variety of terms.
A contig of the CMT1A duplication was manually constructed using databank searches with terminal sequences of the clones using the BLAST program (30).
4-Mb CMT1A region and described the complete genome sequence between the CMT1A-REPs (21).