Development and implementation of diagnostic testing technology for rare ethnospecific genetic diseases

Technologies of early diagnosis of rare ethno-specific diseases were developed which are especially important in isolated populations with high prevalence of them. In Yakutia autosomal-recessive diseases such as SOPH-syndrome, Neuronal ceroid lipofuscinosis-6A, Mucopolysaccharidosis-Plus Syndrome, 3M-syndrome, NEM type 1, tyrosinemia type 1, and hereditary nonsyndromic deafness type 1 are being researched. Molecular diagnostics of these conditions was developed by using methods: RFLP, RT-PCR, biochips with sensitivity and specificity ~97%. Implementation of these technologies help to conduct population screening, identify carriers, and supports genetic counseling. The database with a registry was created. Further researches aims to expand the range of tested etno-specific variants.

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