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  1. NTU Scholars
  2. 醫學院
  3. 醫學系
Please use this identifier to cite or link to this item: https://scholars.lib.ntu.edu.tw/handle/123456789/547829
Title: A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay
Authors: Lin C.-Y.
Su Y.-N.
CHIEN-NAN LEE 
Hung C.-C.
WEN-FANG CHENG 
Win-Li Lin 
CHI-AN CHEN 
SUNG-TSANG HSIEH 
Issue Date: 2006
Journal Volume: 51
Journal Issue: 3
Start page/Pages: 227-235
Source: Journal of Human Genetics
Abstract: 
Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are caused by a 1.5-Mb duplication and a deletion at chromosome 17p11.2-12 encompassing the peripheral myelin protein 22 gene (PMP22), respectively. We developed a rapid and reliable detection system for duplications/deletions of the PMP22 gene based on measurement of gene copy number. The method involves amplification of a test locus with unknown copy number and a reference locus of known copy number by multiplex PCR (MP), followed by denaturing high-performance liquid chromatography (DHPLC) or capillary electrophoresis detection to identify single copy changes. Thirty-two patients with CMT1A, 17 patients with HNPP, and 61 unaffected individuals were analyzed. Using the same competitive MP protocol, the measured PMP22 gene dosage revealed concordant results between DHPLC and capillary electrophoresis analysis. The results of the MP/DHPLC or the MP/capillary electrophoresis assay were all confirmed by PCR-restriction fragment length polymorphism analysis. We concluded that the MP/ DHPLC assay is an efficient, accurate, and reliable technique for gene dosage determination of the PMP22 gene for CMT1A duplication and HNPP deletion. This technique further extends the application of DHPLC as an alternative method for the measurement of gene amplifications and heterozygous deletions in different genetic diseases. ? The Japan Society of Human Genetics and Springer-Verlag 2006.
URI: https://www.scopus.com/inward/record.uri?eid=2-s2.0-33645227238&doi=10.1007%2fs10038-005-0350-9&partnerID=40&md5=7596409466c894fcc2d23c2a819a9929
https://scholars.lib.ntu.edu.tw/handle/123456789/547829
ISSN: 1434-5161
DOI: 10.1007/s10038-005-0350-9
SDG/Keyword: gene product; peripheral myelin protein 22; analytic method; article; capillary electrophoresis; clinical article; comparative study; controlled study; CYBB gene; denaturing high performance liquid chromatography; diagnostic accuracy; diagnostic value; gene; gene amplification; gene deletion; gene dosage; gene duplication; genetic analysis; hereditary motor sensory neuropathy; hereditary neuropathy with liability to pressure palsies; heterozygosity; human; KRIT1 gene; multiplex polymerase chain reaction; neuropathy; nucleotide sequence; PMP22 gene; reliability; restriction fragment length polymorphism; Base Sequence; Chromatography, High Pressure Liquid; DNA Primers; Electrophoresis, Capillary; Gene Dosage; Humans; Myelin Proteins; Reproducibility of Results
[SDGs]SDG3
Appears in Collections:醫學系

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臺大位居世界頂尖大學之列,為永久珍藏及向國際展現本校豐碩的研究成果及學術能量,圖書館整合機構典藏(NTUR)與學術庫(AH)不同功能平台,成為臺大學術典藏NTU scholars。期能整合研究能量、促進交流合作、保存學術產出、推廣研究成果。

To permanently archive and promote researcher profiles and scholarly works, Library integrates the services of “NTU Repository” with “Academic Hub” to form NTU Scholars.

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