ANALYSIS OF COMMON MUTATIONS IN GJB2 AND GJB6 GENES IN PATIENTS WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS IN EASTERN AZARBAIJAN

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.

JABARPOUR BONYADI MORTEZA; ESMAEILI M.; YOUNESPOUR R.; LOTF ALIZADEH N.; ABSAVARAN A.A.F.

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

Journal Paper

Paper Information

Journal: Journal of Advances in Medical and Biomedical Research Year:2006 | Volume:14 | Issue:55 Page(s): 30-38

Download Full-Text

Persian Verion

View:

1,292

Download:

Cites:

Information Journal Paper

Title

ANALYSIS OF COMMON MUTATIONS IN GJB2 AND GJB6 GENES IN PATIENTS WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS IN EASTERN AZARBAIJAN

Author(s)

Keywords

ARNSHLQ3

GJB2Q3

GJB6Q3

EASTERN AZARBAIJANQ3

Abstract

Background and Objective: Profound hearing loss is one of the most prevalent congenital disorders affecting about 1 in 1000 newborns. Autosomal recessive non-syndromic hearing loss (ARNSHL) is the predominant form of the severe inherited childhood deafness. This type of hearing loss in one-half of the cases is caused by mutations in GJB2 (connexin 26) and GJB6 (connexin 30) genes located at DFNB 1 locus of chromosome13q. Protein products of the two above-mentioned genes play a crucial role in the intercellular communications within the inner ear through gap junction. This study was conducted to analyze the two most common mutations among ARNSHL patients referring to the Genetics center of Tabriz, eastern Azarbaij an.Materials & Methods: The most common mutation of GJB2 gene (35delG) and a mutation of GJB6 gene (del(GJB6-D13S1830)) were analyzed in 129 referring patients with ARNSHL using ARMS-PCR and multiplex-PCR techniques, respectively. These methods facilitate analyzing parents and carriers.Results: 21% of the studied families had 35delG mutation in connexin 26 gene. 36 chromosomes (18%) out of 200 studied chromosomes had 35delG mutation while none of the chromosomes had del (GJB6- D 13S 1830) mutation in connexin 30. The 35delG mutation was assessed in parents and siblings in order to detect carriers.Conclusion: 35delG mutation accounts for 18% of ARNSHL in eastern Azerbaijan which is various to other published studies from different regions of Iran. The absence of del (GJB6-D13S1830) mutation in the patients may be due to the founder effect.

Cites

No record.

References

Cite

APA: Copy

JABARPOUR BONYADI, MORTEZA, ESMAEILI, M., YOUNESPOUR, R., LOTF ALIZADEH, N., & ABSAVARAN, A.A.F.. (2006). ANALYSIS OF COMMON MUTATIONS IN GJB2 AND GJB6 GENES IN PATIENTS WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS IN EASTERN AZARBAIJAN. JOURNAL OF ADVANCES IN MEDICAL AND BIOMEDICAL RESEARCH, 14(55), 30-38. SID. https://sid.ir/paper/61674/en

Vancouver: Copy

JABARPOUR BONYADI MORTEZA, ESMAEILI M., YOUNESPOUR R., LOTF ALIZADEH N., ABSAVARAN A.A.F.. ANALYSIS OF COMMON MUTATIONS IN GJB2 AND GJB6 GENES IN PATIENTS WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS IN EASTERN AZARBAIJAN. JOURNAL OF ADVANCES IN MEDICAL AND BIOMEDICAL RESEARCH[Internet]. 2006;14(55):30-38. Available from: https://sid.ir/paper/61674/en

IEEE: Copy

MORTEZA JABARPOUR BONYADI, M. ESMAEILI, R. YOUNESPOUR, N. LOTF ALIZADEH, and A.A.F. ABSAVARAN, “ANALYSIS OF COMMON MUTATIONS IN GJB2 AND GJB6 GENES IN PATIENTS WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS IN EASTERN AZARBAIJAN,” JOURNAL OF ADVANCES IN MEDICAL AND BIOMEDICAL RESEARCH, vol. 14, no. 55, pp. 30–38, 2006, [Online]. Available: https://sid.ir/paper/61674/en

Related Journal Papers