FREQUENCY OF A VERY RARE 35DELG MUTATION IN TWO ETHNIC GROUPS OF IRANIAN POPULATIONS

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SASANFAR R.; TOLOUEI A.; HOSEINIPOUR A.; FARHOUD D.D.; DOULATI M.; HOGHOOGHI RAD L.; MONTAZER ZOHOUR M.; GHAEMI M.; POURJAFARI H.; HASHEMZADEH CHALESHTORI M.

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Journal: Iranian Journal of Public Health Year:2004 | Volume:33 | Issue:4 Page(s): 26-30

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Title

FREQUENCY OF A VERY RARE 35DELG MUTATION IN TWO ETHNIC GROUPS OF IRANIAN POPULATIONS

Author(s)

Keywords

CONNEXIN 26

GJB2

DEAFNESS

MUTATION

AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS

IRAN

Abstract

The 35delG MUTATION in the CONNEXIN 26 gene (Cx26), at the DNFB1 locus is the most common MUTATION in the patients with AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS (ARNSHL). We have studied a total of 224 deaf cases from 189 families in two populations of IRAN (Sistan va Bluchestan and Hormozgan provinces) by prescreening nested PCR, polyacrylamide gel electrophoresis and consequent direct sequencing method for all cases. The aim of the present work was to find prevalence of GJB2 mutations in the populations studied. Four different GJB2 mutations including 35delG, W24X, R127H and (V27I + E114 G) were identified in 11 of 189 families (5.8%). Two polymorphisms (V27I and V153I) also were detected in 14 families. A polymorphism S86T was determined in all cases. Homozygote 35delG MUTATION was found only in 1 of 189 families (0.5%).The rate of Cx26 mutations found in this study was lower than other IRANian populations. So the cause of DEAFNESS in the populations studied remains to be detected in other loci or genes.

Cites

AUTOSOMAL RECESSIVE AND SPORADIC NON SYNDROMIC HEARING LOSS AND THE INCIDENCE OF CX26 MUTATIONS IN A PROVINCE OF IRAN

References

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APA: Copy

SASANFAR, R., TOLOUEI, A., HOSEINIPOUR, A., FARHOUD, D.D., DOULATI, M., HOGHOOGHI RAD, L., MONTAZER ZOHOUR, M., GHAEMI, M., POURJAFARI, H., & HASHEMZADEH CHALESHTORI, M.. (2004). FREQUENCY OF A VERY RARE 35DELG MUTATION IN TWO ETHNIC GROUPS OF IRANIAN POPULATIONS. IRANIAN JOURNAL OF PUBLIC HEALTH, 33(4), 26-30. SID. https://sid.ir/paper/272066/en

Vancouver: Copy

SASANFAR R., TOLOUEI A., HOSEINIPOUR A., FARHOUD D.D., DOULATI M., HOGHOOGHI RAD L., MONTAZER ZOHOUR M., GHAEMI M., POURJAFARI H., HASHEMZADEH CHALESHTORI M.. FREQUENCY OF A VERY RARE 35DELG MUTATION IN TWO ETHNIC GROUPS OF IRANIAN POPULATIONS. IRANIAN JOURNAL OF PUBLIC HEALTH[Internet]. 2004;33(4):26-30. Available from: https://sid.ir/paper/272066/en

IEEE: Copy

R. SASANFAR, A. TOLOUEI, A. HOSEINIPOUR, D.D. FARHOUD, M. DOULATI, L. HOGHOOGHI RAD, M. MONTAZER ZOHOUR, M. GHAEMI, H. POURJAFARI, and M. HASHEMZADEH CHALESHTORI, “FREQUENCY OF A VERY RARE 35DELG MUTATION IN TWO ETHNIC GROUPS OF IRANIAN POPULATIONS,” IRANIAN JOURNAL OF PUBLIC HEALTH, vol. 33, no. 4, pp. 26–30, 2004, [Online]. Available: https://sid.ir/paper/272066/en

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