Journal of Human Genetics and Genomics

Published by: Kowsar

Potential Founder Effect of Tyrosinase Gene Mutations in Oculocutaneous Albinism Families from West of Iran

Faravareh Khordadpoor Deilamani 1 , 2 and Mohammad Taghi Akbari 2 , 3 , *
Authors Information
1 Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran
2 Tehran Medical Genetics Laboratory, Tehran, Iran
3 Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
Article information
  • Journal of Human Genetics and Genomics: April 2017, 1 (1); e63718
  • Published Online: April 25, 2017
  • Article Type: Research Article
  • Received: February 5, 2017
  • Accepted: March 25, 2017
  • DOI: 10.5812/jhgg.63718

To Cite: Khordadpoor Deilamani F, Akbari M T. Potential Founder Effect of Tyrosinase Gene Mutations in Oculocutaneous Albinism Families from West of Iran, J Human Gen Genom. 2017 ; 1(1):e63718. doi: 10.5812/jhgg.63718.

Abstract
Copyright © 2017, Journal of Human Genetics and Genomics. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited
1. Background
2. Methods
4. Results
5. Discussion
Acknowledgements
Footnote
References
  • 1. Wei AH, Yang XM, Lian S, Li W. Genetic analyses of Chinese patients with digenic oculocutaneous albinism. Chin Med J (Engl). 2013;126(2):226-30. [PubMed: 23324268].
  • 2. Gargiulo A, Testa F, Rossi S, Di Iorio V, Fecarotta S, de Berardinis T, et al. Molecular and clinical characterization of albinism in a large cohort of Italian patients. Invest Ophthalmol Vis Sci. 2011;52(3):1281-9. doi: 10.1167/iovs.10-6091. [PubMed: 20861488].
  • 3. Lekalakala PT, Khammissa RA, Kramer B, Ayo-Yusuf OA, Lemmer J, Feller L. Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa. J Skin Cancer. 2015;2015:167847. doi: 10.1155/2015/167847. [PubMed: 26347819].
  • 4. Levine EA, Ronan SG, Shirali SS, Das Gupta TK. Malignant melanoma in a child with oculocutaneous albinism. J Surg Oncol. 1992;51(2):138-42. [PubMed: 1405654].
  • 5. Streutker CJ, McCready D, Jimbow K, From L. Malignant melanoma in a patient with oculocutaneous albinism. J Cutan Med Surg. 2000;4(3):149-52. doi: 10.1177/120347540000400307. [PubMed: 11003720].
  • 6. Kamaraj B, Purohit R. Mutational analysis of oculocutaneous albinism, a compact review. Biomed Res Int. 2014;2014:1-10. doi: 10.1155/2014/905472.
  • 7. Tomita Y, Miyamura Y. Oculocutaneous albinism and analysis of tyrosinase gene in Japanese patients. Nagoya J Med Sci. 1998;61(3-4):97-102. [PubMed: 9879192].
  • 8. Gronskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, et al. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. Invest Ophthalmol Vis Sci. 2009;50(3):1058-64. doi: 10.1167/iovs.08-2639. [PubMed: 19060277].
  • 9. Wang Y, Guo X, Li W, Lian S. Four novel mutations of TYR gene in Chinese OCA1 patients. J Dermatol Sci. 2009;53(1):80-1. doi: 10.1016/j.jdermsci.2008.07.002. [PubMed: 18701257].
  • 10. Opitz S, Kasmann-Kellner B, Kaufmann M, Schwinger E, Zuhlke C. Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism. Hum Mutat. 2004;23(6):630-1. doi: 10.1002/humu.9248. [PubMed: 15146472].
  • 11. King RA, Pietsch J, Fryer JP, Savage S, Brott MJ, Russell-Eggitt I, et al. Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Hum Genet. 2003;113(6):502-13. doi: 10.1007/s00439-003-0998-1. [PubMed: 13680365].
  • 12. Khordadpoor-Deilamani F, Akbari MT, Karimipoor M, Javadi G. Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations. Mol Vis. 2015;21:730-5. [PubMed: 26167114].
  • 13. Khordadpoor-Deilamani F, Akbari MT, Karimipoor M, Javadi GR. Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations. J Hum Genet. 2016;61(5):373-9. doi: 10.1038/jhg.2015.167. [PubMed: 26818737].
  • 14. Khordadpoor Deilamani F, Akbari MT. Population data of 13 nonCODIS STR markers located inside the 6 nonsyndromic oculocutaneous albinism genes. Int J Legal Med. 2016;130(6):1485-6. doi: 10.1007/s00414-016-1342-3. [PubMed: 26932870].
  • 15. Janavicius R. Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. EPMA J. 2010;1(3):397-412. doi: 10.1007/s13167-010-0037-y. [PubMed: 23199084].
  • 16. Shah SA, Raheem N, Daud S, Mubeen J, Shaikh AA, Baloch AH, et al. Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase. Clin Exp Dermatol. 2015;40(7):774-80. doi: 10.1111/ced.12612. [PubMed: 25703744].
  • 17. Saadat M, Ansari Lari M, Farhud DD. Short report consanguineous marriage in Iran. Ann Hum Biol. 2004;31(2):263-9. doi: 10.1080/03014460310001652211. [PubMed: 15204368].
  • 18. Akrami SM, Montazeri V, Shomali SR, Heshmat R, Larijani B. Is there a significant trend in prevalence of consanguineous marriage in Tehran? A review of three generations. J Genet Couns. 2009;18(1):82-6. doi: 10.1007/s10897-008-9191-y. [PubMed: 18843527].
  • 19. Oetting WS, Mentink MM, Summers CG, Lewis RA, White JG, King RA. Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism. Am J Hum Genet. 1991;49(1):199-206. [PubMed: 1905879].
  • 20. Hutton SM, Spritz RA. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. J Invest Dermatol. 2008;128(10):2442-50. doi: 10.1038/jid.2008.109. [PubMed: 18463683].

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