The Structure and Diversity of Hereditary Pathology in Sakha Republic (Yakutia)

Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect

“…33 The Yakut population exhibits high rate of some Mendelian disorders, which are rare in other populations worldwide. High rates of spinocerebellar ataxia type 1 (SCA1), 32 myothonic dystrophy (DMPK), 26 oculopharyngeal muscular dystrophy (OPMD), 34 autosomal recessive methemoglobinemia (DIA1) 35 and two types of short stature disorders, 3-M (CUL7) and short stature with optic atrophy and Pelger-Huët anomaly (SOPH) syndrome (NBAS), 33,36 were previously found in Yakut population. We estimated the prevalence of DFNB1A associated with splice site IVS1+1G4A mutation in GJB2 gene as 16.2 in 100 000 in Yakut population, that is, higher compared with other common autosomal reccesive disorders found in Yakuts, such as autosomal recessive methemoglobinemia (14.9 in 100 000), 35 two types of short stature disorders, 3-M (10.0 in 100 000), 33 and SOPH syndromes (9.95 in 100 000).…”

“…According to the epidemiological data, high rate of congenital HI is caused by some hereditary forms of deafness spread in indigenous populations of Sakha Republic. 26 The main indigenous people of the Sakha Republic and the largest aboriginal population of Siberia is represented by Turkic-speaking Yakuts (originally named as the Sakha), whose population amounts to 432 290. The Yakuts are characterized by specific anthropological, demographic, linguistic and historical features indicative of their relationships to nomadic Turkic tribes of South Siberia and Central Asia.…”

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly

“…Yakuts are a population isolate in Asian and live in the northeastern part of Siberia in the Republic of Sakha of the Russian Federation 1 2. They exhibit high frequencies of some hereditary disorders 3. Among them short stature syndrome, a rare recessive inherited disease in other populations, is the major hereditary disease 4.…”

Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia

“…Y-chromosome haplotype analysis of Yakuts has found that at some point they experienced a serious decline in their population size, which is known as the bottleneck effect 2 3. In addition, Yakuts exhibit high frequencies of some mendelian disorders 3. Taken together, these findings suggest that Yakuts are a population isolate that can provide a unique model for genetic studies 1…”

“…Yakuts emigrated from southern to northern Siberia in the 13th or 14th century AD and their population has expanded rapidly to >440 000 people in a particular restricted area 2. Y-chromosome haplotype analysis of Yakuts has found that at some point they experienced a serious decline in their population size, which is known as the bottleneck effect 2 3. In addition, Yakuts exhibit high frequencies of some mendelian disorders 3.…”