The spectrum of chromosomal translocations in the Arab world: ethnic-specific chromosomal translocations and their relevance to diseases.

IF 2.3 4区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY
Chromosoma Pub Date : 2022-09-01 Epub Date: 2022-07-30 DOI:10.1007/s00412-022-00775-2
Hadeel T Zedan, Fatma H Ali, Hatem Zayed
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引用次数: 0

Abstract

Chromosomal translocations (CTs) are the most common type of structural chromosomal abnormalities in humans. CTs have been reported in several studies in the Arab world, but the frequency and spectrum of these translocations are not well characterized. The aim of this study is to conduct a systematic review to estimate the frequency and spectrum of CTs in the 22 Arab countries. Four literature databases were searched: PubMed, Science Direct, Scopus, and Web of Science, from the time of inception until July 2021. A combination of broad search terms was used to collect all possible CTs reported in the Arab world. In addition to the literature databases, all captured CTs were searched in three chromosomal rearrangement databases (Mitelman Database, CytoD 1.0 Database, and the Atlas of Genetics and Cytogenetics in Oncology and Hematology), along with PubMed and Google Scholar, to check whether the CTs are unique to the Arabs or shared between Arabs and non-Arabs. A total of 9,053 titles and abstracts were screened, of which 168 studies met our inclusion criteria, and 378 CTs were identified in 15 Arab countries, of which 57 CTs were unique to Arab patients. Approximately 89% of the identified CTs involved autosomal chromosomes. Three CTs, t(9;22), t(13;14), and t(14;18), showed the highest frequency, which were associated with hematological malignancies, recurrent pregnancy loss, and follicular lymphoma, respectively. Complex CTs were commonly reported among Arabs, with a total of 44 CTs, of which 12 were unique to Arabs. This is the first study to focus on the spectrum of CTs in the Arab world and compressively map the ethnic-specific CTs relevant to cancer. It seems that there is a distinctive genotype of Arabs with CTs, of which some manifested with unique clinical phenotypes. Although ethnic-specific CTs are highly relevant to disease mechanism, they are understudied and need to be thoroughly addressed.

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阿拉伯世界染色体易位谱:种族特异性染色体易位及其与疾病的关系。
染色体易位(ct)是人类最常见的染色体结构异常类型。在阿拉伯世界的一些研究中已经报道了ct,但这些易位的频率和频谱并没有很好地表征。本研究的目的是进行系统评价,以估计22个阿拉伯国家ct的频率和频谱。检索了四个文献数据库:PubMed、Science Direct、Scopus和Web of Science,检索时间从研究开始到2021年7月。广泛的搜索词组合用于收集阿拉伯世界报告的所有可能的ct。除了文献数据库外,还在三个染色体重排数据库(Mitelman数据库、CytoD 1.0数据库、肿瘤和血液学遗传学和细胞遗传学图谱)以及PubMed和谷歌Scholar中检索所有捕获的ct,以检查这些ct是阿拉伯人独有的还是阿拉伯人和非阿拉伯人共有的。共筛选了9053个标题和摘要,其中168项研究符合我们的纳入标准,在15个阿拉伯国家确定了378个ct,其中57个ct是阿拉伯患者特有的。大约89%的确诊ct涉及常染色体染色体。三个ct, t(9;22), t(13;14)和t(14;18)显示频率最高,分别与血液系统恶性肿瘤,复发性妊娠丢失和滤泡性淋巴瘤相关。复杂ct在阿拉伯人中普遍报道,共44例,其中12例为阿拉伯人特有。这是第一个专注于阿拉伯世界ct频谱的研究,并对与癌症相关的种族特异性ct进行了压缩绘制。阿拉伯人的ct似乎有一个独特的基因型,其中一些表现出独特的临床表型。虽然种族特异性ct与疾病机制高度相关,但研究不足,需要彻底解决。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Chromosoma
Chromosoma 生物-生化与分子生物学
CiteScore
3.30
自引率
6.20%
发文量
17
审稿时长
1 months
期刊介绍: Chromosoma publishes research and review articles on the functional organization of the eukaryotic cell nucleus, with a particular emphasis on the structure and dynamics of chromatin and chromosomes; the expression and replication of genomes; genome organization and evolution; the segregation of genomes during meiosis and mitosis; the function and dynamics of subnuclear compartments; the nuclear envelope and nucleocytoplasmic interactions, and more. The scope of Chromosoma encompasses genetic, biophysical, molecular and cell biological studies. Average time from receipt of contributions to first decision: 22 days Publishes research and review articles on the functional organization of the eukaryotic cell nucleus Topics include structure and dynamics of chromatin and chromosomes; the expression and replication of genomes; genome organization and evolution; the segregation of genomes during meiosis and mitosis and more Encompasses genetic, biophysical, molecular and cell biological studies.
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