Molecular epidemiology of hereditary disease in ten populations of Karachay-Cherkess Republic

The paper presents the results of the medical genetic examination of 10 populations of the Karachay-Cherkess Republic (KCR) describing the epidemiology (including molecular epidemiology) of hereditary diseases. Molecular confirmation of diagnosis was performed for 181 patients by PCR, MLPA and Sanger sequencing. Molecular epidemiology of three the most common inherited autosomal recessive diseases (cystic fibrosis, sensorineural hearing loss and phenylketonuria) was studied in main ethnic groups KCR (Karachays, Russians, Cherkess, Abazins, Nogais). The frequencies of the three diseases were estimated according to the newborn screening data: cystic fibrosis - 1:2647 people, sensorineural hearing loss - 1:1551, phenylketonuria - 1:1638. Two rare autosomal dominant diseases were diagnosed in KCR and confirmed with NGS (isolated aniridia and metatropic spondyloepimetaphyseal dysplasia). This allowed to identify novel previously unreported causative mutations in both cases.

генетическая эпидемиология, молекулярная эпидемиология, муковисцидоз, фенилкетонурия, нейросенсорная тугоухость, Республика Карачаево-Черкессия, этнографические группы КЧР, genetic epidemiology, molecular epidemiology, cystic fibrosis, phenylketonuria, sensorineural hearing loss, Karachay-Cherkessia Republic, ethnic groups KCR

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