Genetic Variant Screening of DNA Repair Genes in Myelodysplastic Syndrome Identifies a Novel Mutation in the <b><i>XRCC2</i></b> Gene
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چکیده
منابع مشابه
Family screening for a novel ATP7B gene mutation, c.2335T>G, in the South of Iran
Background Wilson disease (WD) is a rare autosomal recessive disorder, which leads to copper metabolism, due to mutations in ATP7B gene. The gene responsible for WD consists of 21 exons that span a genomic region of about 80 kb and encodes a copper transporting P-type ATPase (ATP7B), a protein consisting of 1465 amino acids. Identifying mutation in ATP7B gene is important to find carrier i...
متن کاملIdentification of a Novel Mutation in CNNM4 Gene in an Iranian Family with Jalili Syndrome
Background and Objectives: Jalili syndrome is a rare autosomal recessive genetic disorder, which so far, only 33 families with this disorder have been reported worldwide. Patients with this disease simultaneously develop cone-rod retinal dystrophy (CRD) and amelogenesis imperfecta (AI). In this study, a mutation causing Jalili syndrome, was investigated in an Iranian family. Case Report: The...
متن کاملNovel mutation in the SLC19A2 gene in Thiamine-responsive megaloblastic anemia (Rogers’ syndrome)
Introduction: The Thiamine Transporter gene SLC19A2 is the only gene known to be associated with TRMA. This syndrome is a trial clinical characterized by megaloblastic anemia, nonautoimmune diabetes mellitus and sensory-neural hearing loss. Methods: Described here are three children from consanguineous Iranian families with thiamine – responsive megaloblastic anemia (TRMA) or Rogers' syndrome....
متن کاملGenetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation.
OBJECTIVE Congenital adrenal hyperplasia (CAH) is an endocrine autosomal recessive disorder with various symptoms of diverse severity. Mild hyperandrogenemia is the most commonclinical feature in non-classic CAH patients and 95% of the cases are identified by mutations in the CYP21A2 gene. In the present study, the second most common cause for non-classic CAH (NC-CAH), 11β-hydroxylase deficienc...
متن کاملDNA-Repair Capacity in Down\'s Syndrome
Down's syndrome (DS) is the most common chromosomal abnormality in human. Subjects with DS are known to be peridisposed to develop leukemia. The molecular basis of the association between DS and leukemia is unknown. The unscheduled DNA synthesis (UDS) test measure the ability of DNA-repair in mammalian cells after excision of a stretch of DNA containing the region of damage induced by chemical ...
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ژورنال
عنوان ژورنال: Oncology Research and Treatment
سال: 2019
ISSN: 2296-5270,2296-5262
DOI: 10.1159/000497209