| چکیده انگلیسی مقاله |
Amelogenesis Imperfecta (AI) is a disorder of tooth development where there is an abnormal formation of enamel or the external layer of teeth. The aim of this study was to screen mutations in the four most important candidate genes, ENAM, KLK4, MMP20 and FAM83H responsible for amelogenesis imperfect.Geneomic DNA was isolated from five Iranian families with 22 members affected with enamel malformations. The PCR amplifications were typically carried out for amplification the coding regions for AI patients and unaffected family members. The PCR products were subjected to direct sequencing. The pedigree analysis was performed using Cyrillic software.One family had four affected members with autosomal dominant hypocalcified amelogenesis imperfecta (ADHPCAI); pedigree analysis revealed four consanguineous families with 18 patients with autosomal recessive hypoplastic amelogenesis imperfecta (ARHPAI). One non-synonymous single-nucleotide substitution, c.1150T>A, p. Ser 342Thr was identified in the FAM83H, which resulted in ADHCAI. Furthermore, different polymorphisms or unclassified variants were detected in MMP20, ENAM and KLK4.Our results are consistent with other studies and provide further evidence for pathogenic mutations of FAM83H gene. These findings suggest different loci and genes could be implicated in the pathogenesis of AI. |
| نویسندگان مقاله |
s جلال پورهاشمی | s jalal pourhashemi
dept. of pediatric dentistry, tehran university of medical sciences, tehran, iran ; dept. of pediatric dentistry, tehran university of medical sciences, international campus, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)
مهدی قندهاری مطلق | mehdi ghandehari motlagh
dept. of pediatric dentistry, tehran university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)
قاسم میقانی | ghasem meighani
dept. of pediatric dentistry, tehran university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)
آزاده ابراهیمی تکلو | azadeh ebrahimi takaloo
dept. of pediatric dentistry, tehran university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)
مهسا منصوری | mahsa mansouri
dept. of pediatric dentistry, tehran university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)
فاطمه مهندس | fatemeh mohandes
dept. of pediatric dentistry, tehran university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)
مریم میرزایی | maryam mirzaii
dept. of pediatric dentistry, tehran university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)
احد خوش زبان | ahad khoshzaban
dept. bio dental materials, dental faculty of tehran university of medical sciences, tehran, iran ; stem cell preparation unit, farabi eye hospital, tehran university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)
فرانک مشتاقی | faranak moshtaghi
stem cell preparation unit, farabi eye hospital, tehran university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)
هدی عابد خجسته | hoda abedkhojasteh
stem cell preparation unit, farabi eye hospital, tehran university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)
منصور حیدری | mansour heidari
stem cell preparation unit, farabi eye hospital, tehran university of medical sciences, tehran, iran ; dept. of medical genetics, tehran university of medical sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)
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