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Iranian Biomedical Journal، جلد ۲۷، شماره ۶، صفحات ۳۹۷-۴۰۳
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چکیده فارسی مقاله
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عنوان انگلیسی Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families
چکیده انگلیسی مقاله Background: Methylmalonic aciduria (MMA) is a rare inherited metabolic disorder with autosomal recessive inheritance pattern. There are still MMA patients without known mutations in the responsible genes. This study aimed to identify mutations in Iranian MMA families using autozygosity mapping and next generation sequencing (NGS).
Methods: Multiplex PCR was performed on DNAs isolated from 12 unrelated MMA patients and their family members using 19 STR markers flanking MUT, MMAA, and MMAB genes, followed by Sanger sequencing. Whole exome sequencing was carried out in the patients with no mutation.
Results: Haplotype analysis and Sanger sequencing revealed two novel, mutations, A252Vf*5 and G87R, within the MMAA and MUT genes, respectively. Three patients showed no mutations in either autozygosity mapping or NGS analysis.
Conclusion: High-frequency mutations within exons 2 and 3 of MUT gene and exon 7 of MMAB gene are consistent with the global expected frequency of genetic variations among MMA patients.
کلیدواژه‌های انگلیسی مقاله Autozygosity mapping, Genotype, Methylmalonic acidemia
نویسندگان مقاله | Mahboobeh Jafari
Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran


| Fatemeh Karami
Department of Medical Genetics, Applied Biophotonics Research Center, Science and Research Branch, Islamic Azad University, Tehran, Iran


| Aria Setoodeh
Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran


| Ali Rahmanifar
Clinical and Research Unit, Iranian National Society for the Study of Inborn Errors of Metabolism, Tehran, Iran


| Hamideh Bagherian
Kawsar Human Genetics Research Center, Tehran, Iran


| Mohammad Reza Alaei
Department of Pediatric Endocrinology and Metabolism, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Farzaneh Rohani
Pediatric Growth and Development Research Center, Institute of Endocrinology and Metabolism, Iran University of Medical Science, Tehran, Iran


| Sirous Zeinali
Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran
نشانی اینترنتی http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-5028-1&slc_lang=en&sid=1
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کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده Molecular Genetics & Genomics
نوع مقاله منتشر شده مقاله کامل
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