在伊朗通过全外显子组测序发现杜氏肌营养不良基因缺失。

IF 2.6 4区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY
Saman Ameri-Mahabadi, Ali Nikfar, Mojdeh Mansouri, Hossein Chiti, Gita Fatemi Abhari, Negin Parsamanesh
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引用次数: 0

摘要

杜氏肌营养不良症(DMD)是一种严重的进行性x连锁神经肌肉疾病,通过肌营养不良蛋白基因突变影响运动。这种突变导致肌营养不良蛋白不足、缺乏或功能失调。DMD的病因是在一个伊朗家庭确定的。外显子组测序与完整的家庭体检一起进行。用计算机方法发现了蛋白质结构的变化。DMD基因(NM-004006.2)的纯合变异定义为21外显子的c.2732-2733delTT (p.Phe911CysfsX8)。此外,对人类肌营养不良蛋白序列的系统发育保守性研究表明,苯丙氨酸911是进化上保守的氨基酸之一。总之,我们的研究表明在受影响的家族中有一个新的DMD基因缺失。这种带有x连锁遗传模式的缺失在伊朗是新的。这些发现可以为这个家庭和未来的其他患者提供遗传咨询。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Deletion in Duchenne Muscular Dystrophy Gene Found Through Whole Exome Sequencing in Iran.

Duchenne muscular dystrophy (DMD) is a severe progressive X-linked neuromuscular illness that affects movement through mutations in dystrophin gene. The mutation leads to insufficient, lack of, or dysfunction of dystrophin. The cause of DMD was determined in an Iranian family. Exome sequencing was carried out along with a complete physical examination of the family. In silico methods were applied to find the alteration in the protein structure. The homozygous variant in DMD gene (NM-004006.2) was defined as c.2732-2733delTT (p.Phe911CysfsX8) in exon 21. In addition, phylogenetic conservation study of the human dystrophin protein sequence revealed that phenylalanine 911 is one of the evolutionarily conserved amino acids. In conclusion, our study indicated a new deletion in the DMD gene in the affected family. This deletion with an X-linked inheritance pattern is new in Iran. These findings could facilitate genetic counseling for this family and other patients in the future.

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来源期刊
DNA and cell biology
DNA and cell biology 生物-生化与分子生物学
CiteScore
6.60
自引率
0.00%
发文量
93
审稿时长
1.5 months
期刊介绍: DNA and Cell Biology delivers authoritative, peer-reviewed research on all aspects of molecular and cellular biology, with a unique focus on combining mechanistic and clinical studies to drive the field forward. DNA and Cell Biology coverage includes: Gene Structure, Function, and Regulation Gene regulation Molecular mechanisms of cell activation Mechanisms of transcriptional, translational, or epigenetic control of gene expression Molecular Medicine Molecular pathogenesis Genetic approaches to cancer and autoimmune diseases Translational studies in cell and molecular biology Cellular Organelles Autophagy Apoptosis P bodies Peroxisosomes Protein Biosynthesis and Degradation Regulation of protein synthesis Post-translational modifications Control of degradation Cell-Autonomous Inflammation and Host Cell Response to Infection Responses to cytokines and other physiological mediators Evasive pathways of pathogens.
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