RESULTS OF PMP22 GENE DELETION AND DUPLICATION ANALYSIS IN 100 PATIENTS WITH HEREDITARY NEUROPATHY

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ERGÜN Ş., Perçin E., ERGÜN M. A.

Balkan Journal of Medical Genetics, cilt.29, sa.1, ss.51-54, 2026 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29 Sayı: 1
  • Basım Tarihi: 2026
  • Doi Numarası: 10.2478/bjmg-2026-0010
  • Dergi Adı: Balkan Journal of Medical Genetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Directory of Open Access Journals, Academic Search Ultimate (EBSCO), East & Central Europe Database (ProQuest), Natural Science Collection (ProQuest), Biological Science Database (ProQuest), Biomedical Reference Collection: Corporate Edition (EBSCO), Health Research Premium Collection (ProQuest), Pharma Collection (ProQuest)
  • Sayfa Sayıları: ss.51-54
  • Anahtar Kelimeler: CMT1A, hereditary neuropathy, HNPP, PCR-RFLP, PMP22 gene
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Gazi Üniversitesi Adresli: Evet

Özet

Hereditary neuropathies, including CMT1A and HNPP, are commonly associated with PMP22 gene dosage alterations. Although MLPA is widely used, cost-effective alternatives are still needed in resource-limited settings. METHODS We analyzed PMP22 gene deletions and duplications in 100 patients with suspected hereditary neuropathy using PCR-RFLP. RESULTS PMP22 deletions and duplications were detected in 18% and 8% of patients, respectively. CONCLUSIONS Our findings support PCR-RFLP as a practical and accessible screening method for PMP22 gene dosage abnormalities, particularly in settings where advanced molecular techniques are not readily available.