Spinal muscular atrophy carrier frequency in Ukraine

Spinal muscular atrophy carrier frequency in Ukraine Background. Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder with the frequency of carriers in a number of ethnical groups ranging from 1/50 to 1/25. However, the prevalence of SMA for population of Ukraine remains to be established. Methods. For the analysis of deletion in exon 7 SMN1 gene in SYBR Green Real-Time qPCR assay specific for the single nucleotide change in exon 7 (c.840 C>T) was used. Results. Using SYBR Green qPCR assay, the incidence of the exon 7 SMN1 deletion was established among 370 unrelated individuals without family history of SMA. The carrier frequency for this group of Ukrainians was estimated as 3.24% (1/31). Conclusions. The results of our study showing the high prevalence of carriers warrant the importance of population screening for SMA in Ukraine. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Russian Journal of Genetics Springer Journals

Spinal muscular atrophy carrier frequency in Ukraine

2 pages
Read Article

Loading next page...
 
/lp/springer_journal/spinal-muscular-atrophy-carrier-frequency-in-ukraine-cpX3IzfEW7
Publisher
Springer US
Copyright
Copyright © 2013 by Pleiades Publishing, Ltd.
Subject
Biomedicine; Human Genetics; Animal Genetics and Genomics; Microbial Genetics and Genomics
ISSN
1022-7954
eISSN
1608-3369
D.O.I.
10.1134/S1022795413080140
Publisher site
See Article on Publisher Site

Abstract

Background. Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder with the frequency of carriers in a number of ethnical groups ranging from 1/50 to 1/25. However, the prevalence of SMA for population of Ukraine remains to be established. Methods. For the analysis of deletion in exon 7 SMN1 gene in SYBR Green Real-Time qPCR assay specific for the single nucleotide change in exon 7 (c.840 C>T) was used. Results. Using SYBR Green qPCR assay, the incidence of the exon 7 SMN1 deletion was established among 370 unrelated individuals without family history of SMA. The carrier frequency for this group of Ukrainians was estimated as 3.24% (1/31). Conclusions. The results of our study showing the high prevalence of carriers warrant the importance of population screening for SMA in Ukraine.

Journal

Russian Journal of Genetics – Springer Journals

Published: Sep 15, 2013

References

  • Quantitative analyses of SMN1 and SMN2 based on real-time lightcycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
    Feldkotter, M; Schwarzer, V; Wirth, R
  • Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy
    Pearn, J
  • Structure and organization of the human survival motor neuron (SMN) gene
    Burglen, L; Lefebvre, S; Clermont, O
  • Identification and characterization of a spinal muscular atrophy-determining gene
    Lefebvre, S; Burglen, L; Reboullet, S
  • PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
    Steege, G; Grootscholten, PM; Vlies, P
  • Quantitative analysis of survival motor neuron copies: Identification of subtl SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling
    Wirth, B; Herz, M; Wetter, A
  • Implementation of the quantitative real-time PCR for the molecular-genetic diagnostics of spinal muscular atrophy
    Soloviov, OO; Livshits, GB; Podlesnaya, SS; Livshits, LA
  • Molecular Cloning: A Laboratory Manual
    Maniatis, T; Fritsch, EF; Sambrook, J
  • Analysis of relative gene expression data using real-time quantitative PCR and the 2−ΔΔCT method
    Livak, KJ; Schmittgen, TD
  • Differences in SMN1 allele frequencies among ethnic groups within North America
    Hendrickson, BC; Donohoe, C; Akmaev, VR
  • Determination of SMN1 and SMN2 copy numbers in a Korean population using multiplex ligation-dependent probe amplification
    Yoon, S; Lee, C H; Lee, K-A
  • Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population
    Zhu, S-Y; Fu, X; Ya-Jun, C
  • Detection of spinal muscular atrophy carriers in a sample of the Brazilian population
    Bueno, KC; Gouveaa, SP; Genaria, AB
  • Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population
    Hasanzad, M; Azad, M; Kahrizi, K

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

Try 2 weeks free now

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

or browse the journals available

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

Sign up
for free
Start 14 day
Free Trial