Balkan journal of medical genetics : BJMG · 2026
Results Of PMP22 Gene Deletion and Duplication Analysis in 100 Patients with Hereditary Neuropathy.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Ergün S G, Perçin E F, Ergün M A
Аннотация
BACKGROUND: 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.
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.