High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia

N. V. Petrova; N. Yu Kashirskaya; T. A. Vasilyeva; E. E. Timkovskaya; A. Yu Voronkova; L. A. Shabalova; E. I. Kondratyeva; V. D. Sherman; O. G. Novoselova; N. I. Kapranov; R. A. Zinchenko; E. K. Ginter; A. Kh M. Makaov; B. Kerem

doi:10.1016/j.jcf.2016.02.003

High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia

N. V. Petrova, N. Yu Kashirskaya^*, T. A. Vasilyeva, E. E. Timkovskaya, A. Yu Voronkova, L. A. Shabalova, E. I. Kondratyeva, V. D. Sherman, O. G. Novoselova, N. I. Kapranov, R. A. Zinchenko, E. K. Ginter, A. Kh M. Makaov, B. Kerem

^*Corresponding author for this work

Department of Genetics

Research output: Contribution to journal › Article › peer-review

16 Scopus citations

Abstract

Cystic fibrosis (CF; OMIM #. 219700) is a common autosomal recessive disease. The spectrum and frequency of CFTR mutations vary significantly in different populations and ethnic groups. A genetic epidemiological study was conducted in the indigenous ethnic group of people known as the Karachais. They live in the Republic of Karachay-Cherkessia, which lies in the northwest of Russia's North Caucasus region. Karachai's are Turkic-speaking and consist of 194 thousand people (approximately 40% of the population of the Republic). Molecular genetic analysis was performed in 10 unrelated Karachai families with CF patients from three districts in the Republic. A high frequency of W1282X mutation was found (18 of 20 mutant alleles): eight patients were homozygous for the W1282X mutation, and two were compound heterozygous (the second alleles were R1066C and R709X). Analysis for 13 common CF mutations in the sample of 142 healthy Karachais identified two 1677delTA and two W1282X mutation carriers. Thus, the most common CFTR mutation, F508del, was not detected among the CF patients or in healthy Karachais. The most frequent mutation among Karachai patients is W1282X (90%). Its frequency in healthy Karachais is approximately 0.007. Haplotype analysis using the CFTR intragene DNA markers IVS1CA, IVS6aGATT, IVS8CA and IVS17bCA showed that the origins of the W1282X mutation in Karachay-Cherkessia and the Eastern European part of Russia are different.

Original language	American English
Pages (from-to)	e28-e32
Journal	Journal of Cystic Fibrosis
Volume	15
Issue number	3
DOIs	https://doi.org/10.1016/j.jcf.2016.02.003
State	Published - 1 May 2016

Bibliographical note

Funding Information:
This work was partly sponsored by the following grants: RFBR No. 14-04-00525 : “Epidemiology of rare hereditary disorders in the Russian population. The impact of demographic and genetic structure” and RFBR No. 15-04-01859 : “The study of clinical-genetic and population features of hereditary diseases in Karachay-Cherkessia".

Publisher Copyright:
© 2016 European Cystic Fibrosis Society.

Keywords

Cystic fibrosis
Frequency and spectrum of CFTR mutations
Karachais
W1282X

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10.1016/j.jcf.2016.02.003

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Petrova, N. V., Kashirskaya, N. Y., Vasilyeva, T. A., Timkovskaya, E. E., Voronkova, A. Y., Shabalova, L. A., Kondratyeva, E. I., Sherman, V. D., Novoselova, O. G., Kapranov, N. I., Zinchenko, R. A., Ginter, E. K., Makaov, A. K. M., & Kerem, B. (2016). High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia. Journal of Cystic Fibrosis, 15(3), e28-e32. https://doi.org/10.1016/j.jcf.2016.02.003

@article{aac811ffbb3747f89668e026a35650d1,

title = "High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia",

abstract = "Cystic fibrosis (CF; OMIM #. 219700) is a common autosomal recessive disease. The spectrum and frequency of CFTR mutations vary significantly in different populations and ethnic groups. A genetic epidemiological study was conducted in the indigenous ethnic group of people known as the Karachais. They live in the Republic of Karachay-Cherkessia, which lies in the northwest of Russia's North Caucasus region. Karachai's are Turkic-speaking and consist of 194 thousand people (approximately 40% of the population of the Republic). Molecular genetic analysis was performed in 10 unrelated Karachai families with CF patients from three districts in the Republic. A high frequency of W1282X mutation was found (18 of 20 mutant alleles): eight patients were homozygous for the W1282X mutation, and two were compound heterozygous (the second alleles were R1066C and R709X). Analysis for 13 common CF mutations in the sample of 142 healthy Karachais identified two 1677delTA and two W1282X mutation carriers. Thus, the most common CFTR mutation, F508del, was not detected among the CF patients or in healthy Karachais. The most frequent mutation among Karachai patients is W1282X (90%). Its frequency in healthy Karachais is approximately 0.007. Haplotype analysis using the CFTR intragene DNA markers IVS1CA, IVS6aGATT, IVS8CA and IVS17bCA showed that the origins of the W1282X mutation in Karachay-Cherkessia and the Eastern European part of Russia are different.",

keywords = "Cystic fibrosis, Frequency and spectrum of CFTR mutations, Karachais, W1282X",

author = "Petrova, {N. V.} and Kashirskaya, {N. Yu} and Vasilyeva, {T. A.} and Timkovskaya, {E. E.} and Voronkova, {A. Yu} and Shabalova, {L. A.} and Kondratyeva, {E. I.} and Sherman, {V. D.} and Novoselova, {O. G.} and Kapranov, {N. I.} and Zinchenko, {R. A.} and Ginter, {E. K.} and Makaov, {A. Kh M.} and B. Kerem",

note = "Funding Information: This work was partly sponsored by the following grants: RFBR No. 14-04-00525 : “Epidemiology of rare hereditary disorders in the Russian population. The impact of demographic and genetic structure” and RFBR No. 15-04-01859 : “The study of clinical-genetic and population features of hereditary diseases in Karachay-Cherkessia{"}. Publisher Copyright: {\textcopyright} 2016 European Cystic Fibrosis Society.",

year = "2016",

month = may,

day = "1",

doi = "10.1016/j.jcf.2016.02.003",

language = "American English",

volume = "15",

pages = "e28--e32",

journal = "Journal of Cystic Fibrosis",

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publisher = "Elsevier",

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Petrova, NV, Kashirskaya, NY, Vasilyeva, TA, Timkovskaya, EE, Voronkova, AY, Shabalova, LA, Kondratyeva, EI, Sherman, VD, Novoselova, OG, Kapranov, NI, Zinchenko, RA, Ginter, EK, Makaov, AKM & Kerem, B 2016, 'High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia', Journal of Cystic Fibrosis, vol. 15, no. 3, pp. e28-e32. https://doi.org/10.1016/j.jcf.2016.02.003

TY - JOUR

T1 - High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia

AU - Petrova, N. V.

AU - Kashirskaya, N. Yu

AU - Vasilyeva, T. A.

AU - Timkovskaya, E. E.

AU - Voronkova, A. Yu

AU - Shabalova, L. A.

AU - Kondratyeva, E. I.

AU - Sherman, V. D.

AU - Novoselova, O. G.

AU - Kapranov, N. I.

AU - Zinchenko, R. A.

AU - Ginter, E. K.

AU - Makaov, A. Kh M.

AU - Kerem, B.

N1 - Funding Information: This work was partly sponsored by the following grants: RFBR No. 14-04-00525 : “Epidemiology of rare hereditary disorders in the Russian population. The impact of demographic and genetic structure” and RFBR No. 15-04-01859 : “The study of clinical-genetic and population features of hereditary diseases in Karachay-Cherkessia". Publisher Copyright: © 2016 European Cystic Fibrosis Society.

PY - 2016/5/1

Y1 - 2016/5/1

N2 - Cystic fibrosis (CF; OMIM #. 219700) is a common autosomal recessive disease. The spectrum and frequency of CFTR mutations vary significantly in different populations and ethnic groups. A genetic epidemiological study was conducted in the indigenous ethnic group of people known as the Karachais. They live in the Republic of Karachay-Cherkessia, which lies in the northwest of Russia's North Caucasus region. Karachai's are Turkic-speaking and consist of 194 thousand people (approximately 40% of the population of the Republic). Molecular genetic analysis was performed in 10 unrelated Karachai families with CF patients from three districts in the Republic. A high frequency of W1282X mutation was found (18 of 20 mutant alleles): eight patients were homozygous for the W1282X mutation, and two were compound heterozygous (the second alleles were R1066C and R709X). Analysis for 13 common CF mutations in the sample of 142 healthy Karachais identified two 1677delTA and two W1282X mutation carriers. Thus, the most common CFTR mutation, F508del, was not detected among the CF patients or in healthy Karachais. The most frequent mutation among Karachai patients is W1282X (90%). Its frequency in healthy Karachais is approximately 0.007. Haplotype analysis using the CFTR intragene DNA markers IVS1CA, IVS6aGATT, IVS8CA and IVS17bCA showed that the origins of the W1282X mutation in Karachay-Cherkessia and the Eastern European part of Russia are different.

AB - Cystic fibrosis (CF; OMIM #. 219700) is a common autosomal recessive disease. The spectrum and frequency of CFTR mutations vary significantly in different populations and ethnic groups. A genetic epidemiological study was conducted in the indigenous ethnic group of people known as the Karachais. They live in the Republic of Karachay-Cherkessia, which lies in the northwest of Russia's North Caucasus region. Karachai's are Turkic-speaking and consist of 194 thousand people (approximately 40% of the population of the Republic). Molecular genetic analysis was performed in 10 unrelated Karachai families with CF patients from three districts in the Republic. A high frequency of W1282X mutation was found (18 of 20 mutant alleles): eight patients were homozygous for the W1282X mutation, and two were compound heterozygous (the second alleles were R1066C and R709X). Analysis for 13 common CF mutations in the sample of 142 healthy Karachais identified two 1677delTA and two W1282X mutation carriers. Thus, the most common CFTR mutation, F508del, was not detected among the CF patients or in healthy Karachais. The most frequent mutation among Karachai patients is W1282X (90%). Its frequency in healthy Karachais is approximately 0.007. Haplotype analysis using the CFTR intragene DNA markers IVS1CA, IVS6aGATT, IVS8CA and IVS17bCA showed that the origins of the W1282X mutation in Karachay-Cherkessia and the Eastern European part of Russia are different.

KW - Cystic fibrosis

KW - Frequency and spectrum of CFTR mutations

KW - Karachais

KW - W1282X

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U2 - 10.1016/j.jcf.2016.02.003

DO - 10.1016/j.jcf.2016.02.003

M3 - Article

C2 - 26948992

AN - SCOPUS:84959387484

SN - 1569-1993

VL - 15

SP - e28-e32

JO - Journal of Cystic Fibrosis

JF - Journal of Cystic Fibrosis

IS - 3

ER -

High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia

Abstract

Bibliographical note

Keywords

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