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Journal of Sciences Islamic Republic of Iran، جلد ۳۵، شماره ۴، صفحات ۳۰۵-۳۱۰
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عنوان انگلیسی Identification of TYR Whole Gene Deletion in a Patient With Oculocutaneous Albinismby Next Generation Sequencing
چکیده انگلیسی مقاله Oculocutaneous albinism (OCA) comprises a group of genetically heterogeneous, autosomal recessive disorders characterized by a partial or complete absence of melanin pigmentation in the skin, hair, and eyes, associated with visual impairment. In this study, we analyzed several genes in an Iranian male infant affected by OCA. Clinical investigations and laboratory evaluations were performed for the proband. A pedigree chart was also drawn. Genomic DNA was extracted from the proband and both parents. A targeted gene panel was sequenced by next-generation sequencing to identify pathogenetic variants. A deletion of exons 1–5 in the TYR gene was confirmed in the proband. Logically, the parents should be heterozygous for this mutation. The results of this research demonstrate the efficiency of targeted high-throughput sequencing in diagnosing heterogeneous disorders like OCA and detecting large genomic rearrangements. This deletion mutation may have resulted from an unequal crossing-over event in an ancestral lineage.
کلیدواژه‌های انگلیسی مقاله Oculocutaneous albinism (OCA),TYR gene deletion,Next-generation sequencing (NGS)
نویسندگان مقاله Mohammad Reza Pourreza |
1 Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences, Isfahan, Islamic Republic of Iran. 5 Department of Research and Development, Harmonic Medical Genetics Lab, Isfahan, Islamic Republic of Iran

Ghazale Dargahi |
2 Department of Genetics and Molecular Biology, Najafabad Branch, Islamic Azad University, Najafabad, Islamic Republic of Iran. 5 Department of Research and Development, Harmonic Medical Genetics Lab, Isfahan, Islamic Republic of Iran

Marziyeh Hoseinzadeh |
1 Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences, Isfahan, Islamic Republic of Iran. 5 Department of Research and Development, Harmonic Medical Genetics Lab, Isfahan, Islamic Republic of Iran

Nasibe Tabibi |
3 Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Islamic Republic of Iran. 5 Department of Research and Development, Harmonic Medical Genetics Lab, Isfahan, Islamic Republic of Iran

Mohammad Amin Tabatabaiefar |
1 Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences, Isfahan, Islamic Republic of Iran. 4 Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Islamic Republic of Iran. 5 Department of Research and Development, Harmonic Medical Genetics Lab, Isfahan, Islamic Republic of Iran

نشانی اینترنتی https://jsciences.ut.ac.ir/article_103002_8228bc90411e263c0231be454013ee23.pdf
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