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Issue 58

BIOLOGICAL SCIENCES

UDK: 575.1

GENOMIC STRUCTURAL VARIANTS ARE LINKED WITH INTELLECTUAL DISABILITY

OMAROVA Dzamilya Kamilevna,
GURGENOVA Farida Ruslanovna,
MAKSIMOVA Tatyana Nikolaevna,
BULAYEVA Kazima Bagdadovna,
BULAYEV Oleg Alexandrovich


The number of statistically significant (p ≤ 0.05) suggestive linkage peaks with 1.3 < LOD < 3.0 we detected in a total of 10 genomic regions: 1q41, 2p25.3-p24.2, 3p13-p12.1, 4q13.3, 10p11, 11q23, 12q24.22-q24.31, 17q24.2-q25.1, 21q22.13 and 22q12.3-q13.1. Our linkage and structural genomic variation analyses in a remote highland genetic isolate with aggregation of ID demonstrated that even highly isolated single kindred ID has oligo/polygenic pathogenesis.

Keywords: умственная отсталость; генетический изолят; полногеномный анализ сцеплений; STRs, SNPs, CNV, ROH; intellectual disability; genetic isolate; genome-wide linkage scan; STRs - SNPs - CNV - ROH.

Pages: 38 - 48

Date: 12.03.2015

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