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Anatomical Sciences Journal، جلد ۱۲، شماره ۱، صفحات ۹-۱۶
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
Association of rs12913832 in the HERC2 Gene Affecting Human Iris Color Variation |
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| چکیده انگلیسی مقاله |
Introduction: Human eye colour as a physical trait is based on the developmental biology and genetic determinants of the structure known as the iris, which is part of the uveal tract of the eye. Prediction of human visible characteristics (EVCs) by genotyping informative SNPs in DNA as biological witness opens up a new avenue in the forensic genetic. Variation of iris color rely on the amounts of eumelanine and pheomelanin. The aim of this research was to determine and evaluate the frequency and the association of rs12913832 with prediction of human eye color in 53 volunteer of Iranian population samples. Methods: A selection of human body blood samples were collected from donors with informed consent in Clinic Ophthalmology of Baqiyatallah hospital. DNA was extracted from the samples using RGDE procedure. PCR primers for rs12913832 were designed to give amplicon sizes up to 189 bp and Single base extensions (SBE) were done by applying the SNaPshot Multiplex kit in 6 &mul reaction volumes. The results were analyzed with the SPSS 22.0 software package. Results: The frequency of eye color were achieved for brown 34%, blue 17% and intermediate colors 49%, respectively. The genotype frequencies of T/T, C/T and C/C in our population were 4.26 %, 8.35 % and 7.37%, respectively. The statistical analysis revealed the two genotypes including T/T and C/C had a significant associate with dark brown eyes and bright blue eyes, respectively. The sensitivity and specificity of our method were determined 100% and 56.25%,respectively. Conclusion: Our results demonstrated that rs12913832 C>T polymorphism is associated with blue iris color in Iranian population. However, assessment SNP markers by using SNaPshot is a key tool for tracing unknown persons to get primarily information about genotypic and phenotypic characteristics. |
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| کلیدواژه‌های انگلیسی مقاله |
Forensic genetic, SNP, Perdition, Genotype, Eye color |
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| نویسندگان مقاله |
علیرضا رفعتی | alireza rafati
organization
مصطفی حسینی | mostafa hosseini
department of medical genetics, human genetic research center, baqiyatallah university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی بقیه الله (Baqiyatallah university of medical sciences)
محمود تولایی | mahmoud tavallaei
organization
مصطفی نادری | mostafa naderi
organization
امیر هاشم محمدی | amir hashem mohammadi
organization
حسن بهمنی | hasan bahmani
organization
آرش سروآزاد | arash sarveazad
organization
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| نشانی اینترنتی |
http://www.anatomyjournal.ir/browse.php?a_code=A-10-100-1&slc_lang=en&sid=en |
| فایل مقاله |
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| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
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| نوع مقاله منتشر شده |
1 |
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