Prevalence of the 27-bp deletion of the multidrug resistance gene ABCC11

Proteins of the ATP-binding cassette superfamily have important biological functions for active transmembrane transport of compounds, ion channels modulation in cells. Mutations in genes of this superfamily are responsible for the pool of hereditary diseases and cause the effect of multiple drug resistance response to chemotherapy as well. The frequency distribution of this functionally significant mutation in the multidrug resistance gene was analyzed in the present study. This is the first case of finding carriers of the ABCC11 gene 27-bp deletion in the ethnic groups of Russia. The revealed deletion allele frequency corresponds to 4.44% for the Aleuts and to 0.36% for the Kalmyks. The rest studied populations - Russians, Khants, Nivkhs, Mongols, Altaians were monomorphic for the absense of this (rs387906296) mutation. This study genotyping data were compared to the worldwide frequency distribution of the 27bp-deletion in the ABCC11 gene.

ген ABCC11, 27-п.н. делеция, rs387906296, полиморфизм, алеуты, множественная лекарственная устойчивость, ушная сера, осмидроз, ABCC11 gene, 27-bp deletion, rs387906296, polymorphism, Aleuts, multidrug resistance, cerumen, osmidrosis

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