Journal of Isfahan Medical School

Journal of Isfahan Medical School

Genetic Linkage Analysis of DFNB40 and DFNB48 loci in Families with Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) from Western Provinces of Iran

Document Type : Original Article (s)

Authors
Azam Pourahmadiyan 1
Mohammad Amin Tabatabaiefar 2
Somayeh Reiisi 3
Paria Alipour 1
Najmeh Fattahi 1
Morteza Hashemzadeh-Chaleshtori 4
1 MS Student, Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran
2 Assistant Professor, Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
3 Assistant Professor, Department of Genetics, School of Science, Shahrekord University, Shahrekord, Iran
4 Professor, Cellular and Molecular Research Center, School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran
Abstract
Background: Sensorineural hearing loss (SNHL) is the most common sensory disorder and 1 in every 500-1000 newborns is affected. Non-syndromic SNHL accounts for 70% of hereditary hearing loss and 80% of SNHL cases have an autosomal recessive mode of inheritance (ARNSHL). The Purpose of the recent study is genetic linkage analysis to determine the prevalence of DFNB40 and DFNB48 loci in studying families with ARNSHL from the western provinces of Iran.Methods: In this study, 60 families from 3 provinces of Iran involving Hamedan, Kohgiluyeh and Boyer-Ahmad and Chaharmahal and Bakhtiari with autosomal recessive non syndromic hearing loss were examined. The selected families in this study were consanguineous and had at least two patients. They also were negative for GJB2 mutations. Linkage analysis was performed by using 6 markers short tandem repeat (STR) for the DFNB40 locus and 7 markers STR for the DFNB48 locus.Findings: After examining different families, it was revealed that none of them showed linkage to the DFNB40 and DFNB48 loci.Conclusion: The recent study suggests that DFNB40 and DFNB48 loci might not play an important role in causing hearing loss in the mentioned provinces. However, further studies are necessary to determine more precisely the role of these loci in the Iranian population.
Keywords
DFNB40 locus
DFNB48 locus
Autosomal recessive non-syndromic hearing loss
  1. Morton CC, Nance WE. Newborn hearing screening--a silent revolution. N Engl J Med 2006; 354(20): 2151-64.
  2. Schrijver I. Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound. J Mol Diagn 2004; 6(4): 275-84.
  3. Van Laer L, Cryns K, Smith RJ, Van Camp G. Nonsyndromic hearing loss. Ear Hear 2003; 24(4): 275-88.
  4. Brownstein Z, Avraham KB. Deafness genes in Israel: Implications for diagnostics in the clinic. Pediatr Res 2009; 66(2): 128-34.
  5. Kochhar A, Hildebrand MS, Smith RJ. Clinical aspects of hereditary hearing loss. Genet Med 2007; 9(7): 393-408.
  6. Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991; 630: 16-31.
  7. Imtiaz F, Taibah K, Ramzan K, Bin-Khamis G, Kennedy S, Al-Mubarak B, et al. A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population. BMC Med Genet 2011; 12: 91.
  8. Saadat M, Ansari-Lari M, Farhud DD. Consanguineous marriage in Iran. Ann Hum Biol 2004; 31(2): 263-9.
  9. Hashemzadeh Chaleshtori M, Farhud DD, Patton MA. Congratulation to margaret chan familial and sporadic GJB2-related deafness in Iran: Review of gene mutations. Iran J Public Health 2007; 36(1): 1-14.
  10. Botstein D, White RL, Skolnick M, Davis RW. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 1980; 32(3): 314-31.
  11. Delmaghani S, Aghaie A, Compain-Nouaille S, Ataie A, Lemainque A, Zeinali S, et al. DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1. Eur J Hum Genet 2003; 11(10): 816-8.
  12. Ahmad J, Khan SN, Khan SY, Ramzan K, Riazuddin S, Ahmed ZM, et al. DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1. Hum Genet 2005; 116(5): 407-12.
  13. Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, et al. Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet 2012; 44(11): 1265-71.
  14. Grimberg J, Nawoschik S, Belluscio L, McKee R, Turck A, Eisenberg A. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 1989; 17(20): 8390.
  15. Ott J. Computer-simulation methods in human linkage analysis. Proc Natl Acad Sci USA 1989; 86(11): 4175-8.
  16. Tabatabaiefar MA, Alasti F, Shariati L, Farrokhi E, Fransen E, Nooridaloii MR, et al. DFNB93, a novel locus for autosomal recessive moderate-to-severe hearing impairment. Clin Genet 2011; 79(6): 594-8.
  17. Ahmed ZM, Riazuddin S, Khan SN, Friedman PL, Riazuddin S, Friedman TB. USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. Clin Genet 2009; 75(1): 86-91.
Journal of Isfahan Medical School
Volume 34, Issue 374 - Serial Number 374
January and February 2016
Pages 214-220

  • Receive Date 30 September 2015
  • Accept Date 06 April 2022