GENETIC STUDY OF 45 BIG HEARING LOSS PEDIGREES AND GJB2 GENE MUTATIONS FREQUENCY IN CHAHARMAHAL VA BAKHTIARI PROVINCE, IRAN, 2008

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.

FAROKHI EFAT; SHIRMARDI S.A.A.F.; KHOUSHDEL A.A.F.; AMANI SOROUSH; SOLEYMANI MAHSHID; KASIRI M.; RAHBARIAN J.B.; PARVIN NEDA; SHAHINFARD N.; NOUDOUST Z.; ZAMEN SALEHIFARD A.; AFZAL M.; TABATABAEIFAR M.A.; SHIRANI M.; HASHEMZADEH CHALESHTORI M.

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

Journal Paper

Paper Information

Journal: Journal of Shahrekord University of Medical Sciences Year:2009 | Volume:10 | Issue:4 Page(s): 16-21

Download Full-Text

Persian Verion

View:

1,220

Download:

Cites:

Information Journal Paper

Title

GENETIC STUDY OF 45 BIG HEARING LOSS PEDIGREES AND GJB2 GENE MUTATIONS FREQUENCY IN CHAHARMAHAL VA BAKHTIARI PROVINCE, IRAN, 2008

Author(s)

Keywords

CONNEXIN 26Q3

DEAFNESSQ3

DEAF PEDIGREESQ3

GENETIC EPIDEMIOLOGYQ2

Abstract

Background and aim: Hearing loss is the most common sensorineural disorder in human. Despite the contribution of several different genes in causing DEAFNESS, mutations in the GJB2 gene have been involved in DEAFNESS in many populations. This study aims to investigate GENETIC EPIDEMIOLOGY and frequency of GJB2 gene mutations in 45 big DEAF PEDIGREES. Methods: In this GENETIC EPIDEMIOLOGY study we have investigated 45 big DEAF PEDIGREES concerning inheritance patterns, consanguinity and diversity of DEAFNESS severity among siblings using data collected by questionnaires and audiograms. We examined also the frequency and profile of GJB2 gene mutations in 45 probands using direct sequencing strategy. Results: Our study revealed 73% of consanguinity in the DEAF PEDIGREES studied. The most common type of first cousins marriage was found between first cousins who were the children of two brothers. We found autosomal recessive and X-linked recessive pattern in 94-97% and 3-6% of the pedigrees studied respectively. Regarding molecular analysis, GJB2 mutations were found in 11% of population studied including 35delG, 167delT, 299-300delAT and 363delC. Conclusion: A high rate of consanguineous marriage determined in this study could raise the rate of autosomal recessive patterns up to 94-97% of the overall pedigree and would be the main cause to prepare the way for congenital DEAFNESS. This study revealed a low contribution of GJB2 gene mutations in causing DEAFNESS in Chaharmahal va Bakhtiari province.

Multimedia

No record.

Cites

No record.

References

Cite

APA: Copy

FAROKHI, EFAT, SHIRMARDI, S.A.A.F., KHOUSHDEL, A.A.F., AMANI, SOROUSH, SOLEYMANI, MAHSHID, KASIRI, M., RAHBARIAN, J.B., PARVIN, NEDA, SHAHINFARD, N., NOUDOUST, Z., ZAMEN SALEHIFARD, A., AFZAL, M., TABATABAEIFAR, M.A., SHIRANI, M., & HASHEMZADEH CHALESHTORI, M.. (2009). GENETIC STUDY OF 45 BIG HEARING LOSS PEDIGREES AND GJB2 GENE MUTATIONS FREQUENCY IN CHAHARMAHAL VA BAKHTIARI PROVINCE, IRAN, 2008. JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES, 10(4), 16-21. SID. https://sid.ir/paper/58463/en

Vancouver: Copy

FAROKHI EFAT, SHIRMARDI S.A.A.F., KHOUSHDEL A.A.F., AMANI SOROUSH, SOLEYMANI MAHSHID, KASIRI M., RAHBARIAN J.B., PARVIN NEDA, SHAHINFARD N., NOUDOUST Z., ZAMEN SALEHIFARD A., AFZAL M., TABATABAEIFAR M.A., SHIRANI M., HASHEMZADEH CHALESHTORI M.. GENETIC STUDY OF 45 BIG HEARING LOSS PEDIGREES AND GJB2 GENE MUTATIONS FREQUENCY IN CHAHARMAHAL VA BAKHTIARI PROVINCE, IRAN, 2008. JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2009;10(4):16-21. Available from: https://sid.ir/paper/58463/en

IEEE: Copy

EFAT FAROKHI, S.A.A.F. SHIRMARDI, A.A.F. KHOUSHDEL, SOROUSH AMANI, MAHSHID SOLEYMANI, M. KASIRI, J.B. RAHBARIAN, NEDA PARVIN, N. SHAHINFARD, Z. NOUDOUST, A. ZAMEN SALEHIFARD, M. AFZAL, M.A. TABATABAEIFAR, M. SHIRANI, and M. HASHEMZADEH CHALESHTORI, “GENETIC STUDY OF 45 BIG HEARING LOSS PEDIGREES AND GJB2 GENE MUTATIONS FREQUENCY IN CHAHARMAHAL VA BAKHTIARI PROVINCE, IRAN, 2008,” JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES, vol. 10, no. 4, pp. 16–21, 2009, [Online]. Available: https://sid.ir/paper/58463/en

Related Journal Papers