Frequency and causes of prevalence of p.Arg894* mutation in CLCN1 gene responsible for development of thomsen’s and becker’s myotonias in russian population

Frequency and causes of prevalence of p.Arg894* mutation in CLCN1 gene responsible for... Thomsen’s (TM) and Becker’s (BM) myotonias are nondystrophic myotonias. At present, 150 mutations in the CLCN1 gene, which results in the development of TM and BM, have been described. The c.2680C>T (p.Arg894*) is the most common mutation. In the Northern Scandinavian countries, the population frequency of this mutation is 0.87%, while in the Russian Federation, it is equal to 1.2% (this study). Based on the results of a molecular-genetic analysis of CLCN1 gene in patients with nondystrophic myotonias, the calculated frequency of TM and BM in Russia is 1: 8165 and 1: 710, respectively. We have conducted haplotype analysis using microsatellite markers and intragene SNP, which has shown that the prevalence of p.Arg894* mutation in Russia results from the founder effect, and the time of its scattering is 3680 ± 1240 years. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Russian Journal of Genetics Springer Journals

Frequency and causes of prevalence of p.Arg894* mutation in CLCN1 gene responsible for development of thomsen’s and becker’s myotonias in russian population

Loading next page...
 
/lp/springer_journal/frequency-and-causes-of-prevalence-of-p-arg894-mutation-in-clcn1-gene-0XaPr0IY0L
Publisher
Springer US
Copyright
Copyright © 2013 by Pleiades Publishing, Inc.
Subject
Biomedicine; Human Genetics; Animal Genetics and Genomics; Microbial Genetics and Genomics
ISSN
1022-7954
eISSN
1608-3369
D.O.I.
10.1134/S1022795413090044
Publisher site
See Article on Publisher Site

Abstract

Thomsen’s (TM) and Becker’s (BM) myotonias are nondystrophic myotonias. At present, 150 mutations in the CLCN1 gene, which results in the development of TM and BM, have been described. The c.2680C>T (p.Arg894*) is the most common mutation. In the Northern Scandinavian countries, the population frequency of this mutation is 0.87%, while in the Russian Federation, it is equal to 1.2% (this study). Based on the results of a molecular-genetic analysis of CLCN1 gene in patients with nondystrophic myotonias, the calculated frequency of TM and BM in Russia is 1: 8165 and 1: 710, respectively. We have conducted haplotype analysis using microsatellite markers and intragene SNP, which has shown that the prevalence of p.Arg894* mutation in Russia results from the founder effect, and the time of its scattering is 3680 ± 1240 years.

Journal

Russian Journal of GeneticsSpringer Journals

Published: Dec 10, 2013

References

You’re reading a free preview. Subscribe to read the entire article.


DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.

All for just $49/month

Explore the DeepDyve Library

Search

Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly

Organize

Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.

Access

Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.

All the latest content is available, no embargo periods.

See the journals in your area

DeepDyve

Freelancer

DeepDyve

Pro

Price

FREE

$49/month
$360/year

Save searches from
Google Scholar,
PubMed

Create lists to
organize your research

Export lists, citations

Read DeepDyve articles

Abstract access only

Unlimited access to over
18 million full-text articles

Print

20 pages / month

PDF Discount

20% off