ANALYSIS OF GENETIC VARIATION OF RS6442530 MARKER IN COLQ GENE AS AN INFORMATIVE MARKER FOR MOLECULAR DIAGNOSIS OF CONGENITAL MYASTHENIC SYNDROME IN ISFAHAN POPULATION

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

MOEINIFAR NAFISE; VALLIAN BORUJENI SADEQ

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES Year:2017 | Volume:26 | Issue:145 Page(s): 1-8

Download Full-Text

Persian Verion

View:

567

Download:

Cites:

Information Journal Paper

Title

ANALYSIS OF GENETIC VARIATION OF RS6442530 MARKER IN COLQ GENE AS AN INFORMATIVE MARKER FOR MOLECULAR DIAGNOSIS OF CONGENITAL MYASTHENIC SYNDROME IN ISFAHAN POPULATION

Author(s)

MOEINIFAR NAFISE | VALLIAN BORUJENI SADEQ | Issue Writer Certificate

Keywords

RS6442530Q1

CONGENITAL MYASTHENIC SYNDROMEQ1

ISFAHANQ3

POPULATIONQ3

SINGLE NUCLEOTIDE POLYMORPHISMQ1

Abstract

Background and purpose: CONGENITAL MYASTHENIC SYNDROME (CMS) is a rare genetic disease with autosomal recessive inheritance pattern which is caused by mutations in the COLQ gene. Molecular diagnosis of the disease using direct mutation analysis is expensive and time consuming. Alternatively, linkage analysis using Single Nucleotide Polymorphic markers (SNP) provides a suitable method in carrier detection and prenatal diagnosis of the disease in families with an affected individual. The aim of this study was to investigate the informative situation of RS6442530 marker in COLQ gene.Materials and methods: In this experimental study, using bioinformatics investigations, RS6442530 marker located in intron 1 of COLQ gene was selected for genotyping studies. For this purpose, 152 healthy individuals from ISFAHAN POPULATION were genotyped using ARMS PCR technique. Then the allelic frequencies, the Hardy-Weinberg equilibrium and heterozygosity of the marker were estimated using the Genepop software. Finally the amount of Polymorphism Information Content (PIC) was computed by PIC Calculator software for the marker.Results: The results indicated 43.4% Minor Allele Frequency (MAF), 48.684211% heterozygosity rate and 0.3706 PIC for RS6442530 marker in ISFAHAN POPULATION. Hardy Weinberg Equilibrium showed the presence of equilibrium for RS6442530 in this POPULATION.Conclusion: Together, according to the results (MAF>0.2 and PIC close to 0.375) RS6442530 marker could be suggested as an appropriate marker for molecular diagnosis of CMS in ISFAHAN POPULATION.

Cites

No record.

References

No record.

Cite

APA: Copy

MOEINIFAR, NAFISE, & VALLIAN BORUJENI, SADEQ. (2017). ANALYSIS OF GENETIC VARIATION OF RS6442530 MARKER IN COLQ GENE AS AN INFORMATIVE MARKER FOR MOLECULAR DIAGNOSIS OF CONGENITAL MYASTHENIC SYNDROME IN ISFAHAN POPULATION. JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES, 26(145), 1-8. SID. https://sid.ir/paper/45771/en

Vancouver: Copy

MOEINIFAR NAFISE, VALLIAN BORUJENI SADEQ. ANALYSIS OF GENETIC VARIATION OF RS6442530 MARKER IN COLQ GENE AS AN INFORMATIVE MARKER FOR MOLECULAR DIAGNOSIS OF CONGENITAL MYASTHENIC SYNDROME IN ISFAHAN POPULATION. JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2017;26(145):1-8. Available from: https://sid.ir/paper/45771/en

IEEE: Copy

NAFISE MOEINIFAR, and SADEQ VALLIAN BORUJENI, “ANALYSIS OF GENETIC VARIATION OF RS6442530 MARKER IN COLQ GENE AS AN INFORMATIVE MARKER FOR MOLECULAR DIAGNOSIS OF CONGENITAL MYASTHENIC SYNDROME IN ISFAHAN POPULATION,” JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES, vol. 26, no. 145, pp. 1–8, 2017, [Online]. Available: https://sid.ir/paper/45771/en

Related Journal Papers