Анализ родословных с несиндромальной нейросенсорной тугоухостью при ассортативных браках

Nonsyndromic sensorineural hearing loss (NSHL) is a hereditary hearing impairment without other pathological symptoms (isolated), caused by damage to the sound-perceiving apparatus. NSHL is genetically heterogeneous, but on average, about 50% of cases of autosomal recessive NSHL is caused by mutations in the GJB2 gene. Marriages between hard-of-hearing people are a common occurrence in modern society, and the number of such marriages is increasing every year. At the same time, a growing interest in genetic testing was shown in couples consisting of assortative deaf marriages. On the example of two pedigrees, in which several assortative marriages were observed, the problems of medical genetic counseling of patients with hearing loss are analyzed taking into account the possibilities of confirmatory DNA diagnosis. The importance of molecular genetic examination for clarifying the form of the disease and determining the genetic risk for different types of marriages is demonstrated.