PREVALENCE STUDY OF GJB2 GENE MUTATIONS IN IRANIAN ETHNICS

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KAHRIZI K.; BAZAZZADEGAN N.; MOHSENI MARZIEH; NIKZAT N.; JALALVAND KH.; RIAZ ALHOSSEINI Y.; SHAFEGHATI Y.; ARZHANGI S.; JAVAN KH.; DANESHI A.; FARHADI MOHAMMAD; EMAM JOMEH H.A.D.; DEHGHANI TAFTI A.; SEYFATI M.; KHODAEI H.; AZADEH B.; NAGHAVI A.; OVEYSI J.; KHOUSH AEIN A.; POURFATEMI F.; RAJABI MOUSA; MALBIN J.; SEPHAHVAND M.; YAZDAN H.; NIKOUEI P.; TAGHDIRI M.; JANKHAH ARIA; HABIBI F.; SOBHANI MASOUMEH; POURFAHIM H.; MOJAHEDI F.; REYHANIFAR F.; FARSHIDI SH.; SMITH R.J.H.; NAJMABADI H.

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Journal: Archives of Rehabilitation (Journal of Rehabilitation) Year:2008 | Volume:8 | Issue:4 (32) Page(s): 35-41

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Title

PREVALENCE STUDY OF GJB2 GENE MUTATIONS IN IRANIAN ETHNICS

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Keywords

GJB2 MUTATIONSQ3

35DELGQ3

IRANQ2

HEREDITARY HEARING LOSSQ3

AUTOSOMAL INHERITANCEQ3

Abstract

Objective: HEREDITARY HEARING LOSS (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital severe-to-profound deafness in many different populations. In this study, we assessed the contributions made by GJB2 MUTATIONS and deletion in a portion of GJB6 to the autosomal recessive non-syndromic deafness genetic load in IRAN.Materials & Methods: In this descriptive and cross - sectional study1605 probands from 1605 different nuclear families with autosomal recessive non-syndromic hearing loss were investigated. Hearing loss tests and clinical examination were done and 10 ml blood was drawn as DNA source. After study of 35DELG mutation by ARMs PCR, negative or heterozygote individuals were sent to IOWA University for detection of other GJB2 MUTATIONS.Results: GJB2-related deafness was found in 243 families (15.1%).Conclusion: Varient geographic pattern for GJB2-related deafness has considerable results in IRAN in comparable with other study in Europe and our neighboring countries and deletion in GJB6. [D (GJB6-D13S1830)] hasn't been detected in our studied population.

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APA: Copy

KAHRIZI, K., BAZAZZADEGAN, N., MOHSENI, MARZIEH, NIKZAT, N., JALALVAND, KH., RIAZ ALHOSSEINI, Y., SHAFEGHATI, Y., ARZHANGI, S., JAVAN, KH., DANESHI, A., FARHADI, MOHAMMAD, EMAM JOMEH, H.A.D., DEHGHANI TAFTI, A., SEYFATI, M., KHODAEI, H., AZADEH, B., NAGHAVI, A., OVEYSI, J., KHOUSH AEIN, A., POURFATEMI, F., RAJABI, MOUSA, MALBIN, J., SEPHAHVAND, M., YAZDAN, H., NIKOUEI, P., TAGHDIRI, M., JANKHAH, ARIA, HABIBI, F., SOBHANI, MASOUMEH, POURFAHIM, H., MOJAHEDI, F., REYHANIFAR, F., FARSHIDI, SH., SMITH, R.J.H., & NAJMABADI, H.. (2008). PREVALENCE STUDY OF GJB2 GENE MUTATIONS IN IRANIAN ETHNICS. ARCHIVES OF REHABILITATION (JOURNAL OF REHABILITATION), 8(4 (32)), 35-41. SID. https://sid.ir/paper/43213/en

Vancouver: Copy

KAHRIZI K., BAZAZZADEGAN N., MOHSENI MARZIEH, NIKZAT N., JALALVAND KH., RIAZ ALHOSSEINI Y., SHAFEGHATI Y., ARZHANGI S., JAVAN KH., DANESHI A., FARHADI MOHAMMAD, EMAM JOMEH H.A.D., DEHGHANI TAFTI A., SEYFATI M., KHODAEI H., AZADEH B., NAGHAVI A., OVEYSI J., KHOUSH AEIN A., POURFATEMI F., RAJABI MOUSA, MALBIN J., SEPHAHVAND M., YAZDAN H., NIKOUEI P., TAGHDIRI M., JANKHAH ARIA, HABIBI F., SOBHANI MASOUMEH, POURFAHIM H., MOJAHEDI F., REYHANIFAR F., FARSHIDI SH., SMITH R.J.H., NAJMABADI H.. PREVALENCE STUDY OF GJB2 GENE MUTATIONS IN IRANIAN ETHNICS. ARCHIVES OF REHABILITATION (JOURNAL OF REHABILITATION)[Internet]. 2008;8(4 (32)):35-41. Available from: https://sid.ir/paper/43213/en

IEEE: Copy

K. KAHRIZI, N. BAZAZZADEGAN, MARZIEH MOHSENI, N. NIKZAT, KH. JALALVAND, Y. RIAZ ALHOSSEINI, Y. SHAFEGHATI, S. ARZHANGI, KH. JAVAN, A. DANESHI, MOHAMMAD FARHADI, H.A.D. EMAM JOMEH, A. DEHGHANI TAFTI, M. SEYFATI, H. KHODAEI, B. AZADEH, A. NAGHAVI, J. OVEYSI, A. KHOUSH AEIN, F. POURFATEMI, MOUSA RAJABI, J. MALBIN, M. SEPHAHVAND, H. YAZDAN, P. NIKOUEI, M. TAGHDIRI, ARIA JANKHAH, F. HABIBI, MASOUMEH SOBHANI, H. POURFAHIM, F. MOJAHEDI, F. REYHANIFAR, SH. FARSHIDI, R.J.H. SMITH, and H. NAJMABADI, “PREVALENCE STUDY OF GJB2 GENE MUTATIONS IN IRANIAN ETHNICS,” ARCHIVES OF REHABILITATION (JOURNAL OF REHABILITATION), vol. 8, no. 4 (32), pp. 35–41, 2008, [Online]. Available: https://sid.ir/paper/43213/en

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