Molecular-genetic diversity in the ABCC11 gene encoding of ATP-binding cassette (ABC)
Abstract
A short review represents comprehensive information in ABCC11 gene polymorphism including our own data about the distribution genotypes and alleles frequencies of ABCC11 (rs17822931) in some ethnic groups of Russia. The protein encoded by ABCC11 gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. Non-synonymous single nucleotide polymorphisms (SNP) 538G >A (rs17822931; Gly180Arg) in the ABCC11 gene determines the type of earwax in individuals has shed light on the novel function of this ABC transporter in apocrine glands. The wild-type (Gly180) of ABCC11 gene associated with wet-type earwax, axillary osmidrosis, and colostrums secretion from mammary gland as well as the potential risk of mastopathy. The SNP (538G>A) in the ABCC11 gene is suggested to be a clinical biomarker for the prediction of chemotherapeutic efficacy. The aim of this work is to study the genotypes and alleles distribution in the ethnical groups of Russia by molecular genetics methods. In the results data on the ABCC11 (rs17822931) polymorphism in three small ethnic group of Russia are represented in this study. The frequencies of ABCC11 (rs17822931) alleles (*G and *A) which determine wet and dry types of ear wax are equal were in khants population to 0,3291 and 0,6709; in nenets 0,3172 and 0,6828 (Western Siberia) and in kalmyks of the Lower Volga to 0,1620 and 0,8380 accordingly.
About the Authors
V. A. Spitsyn
Research Centre for Medical Genetics
Russian Federation
Russian Federation
S. V. Makarov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
M. K. Karapetian
Lomonosov Moscow State University
Russian Federation
Russian Federation
L. S. Bichkovskaya
Research Centre for Medical Genetics
Russian Federation
Russian Federation
N. V. Balinova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
N. V. Alexeeva
Research Centre for Medical Genetics
Russian Federation
Russian Federation
L. V. Betz
Lomonosov Moscow State University
Russian Federation
Russian Federation
A. Yu. Asanov
ГБОУ ВПО. Первый МГМУ им. И.М.Сеченова
Russian Federation
Russian Federation
N. Kh. Spitsyna
Institute of Ethnology and Anthropology
Russian Federation
Russian Federation
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Review
For citations:
Spitsyn V.A., Makarov S.V., Karapetian M.K., Bichkovskaya L.S., Balinova N.V., Alexeeva N.V., Betz L.V., Asanov A.Yu., Spitsyna N.Kh. Molecular-genetic diversity in the ABCC11 gene encoding of ATP-binding cassette (ABC). Medical Genetics. 2017;16(1):31-36. (In Russ.)
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