无症状携带者 15 号和 22 号小超常标记染色体的分子细胞遗传学特征

IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL
Darya A Yurchenko, ZhG Markova, ME Minzhenkova, EO Vorontsova, N. Shilova
{"title":"无症状携带者 15 号和 22 号小超常标记染色体的分子细胞遗传学特征","authors":"Darya A Yurchenko, ZhG Markova, ME Minzhenkova, EO Vorontsova, N. Shilova","doi":"10.24075/brsmu.2024.001","DOIUrl":null,"url":null,"abstract":"Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be identified unambiguously by standard cytogenetic methods. A comprehensive approach involving the use of molecular cytogenetic methods is required for the more thorough morphological assessment of such chromosomes, as well as for the development of strategy for genetic counseling of the patients being the sSMC carriers. It is widely accepted that the development of abnormal phenotype by the patients having sSMC in their karyotype is associated with the presence of euchromatic region material in the marker chromosome. Therefore, it results from the presence of relatively large DNA copy number variations (CNVs) in the form of duplication, triplication, and more increased copy numbers; which are localized in the pericentromeric region of the appropriate chromosome. Pericentromeric CNVs can be involved in the chromosome imbalance in asymptomatic carriers of sSMC as well, however, the boundaries of such imbalance have not been clearly identified. The study was aimed to acquire additional information about the genomic topology of the DNA regions insensitive to the genes copy number increase. FISH analysis with commercial and homemade DNA probes was performed in 18 carriers of sSMC 15 and 22 having no clinically significant phenotypic abnormalities. The molecular cytogenetic testing showed that pericentromeric euchromatic regions sized 1.2 Mb and 714 kb, respectively, were found in 33% of cases (6 out of 18). We assume that these regions comprise no potentially dosage-sensitive genes.","PeriodicalId":9344,"journal":{"name":"Bulletin of Russian State Medical University","volume":null,"pages":null},"PeriodicalIF":0.2000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Molecular cytogenetic characteristics of small supernumerary marker chromosomes 15 and 22 in asymptomatic carriers\",\"authors\":\"Darya A Yurchenko, ZhG Markova, ME Minzhenkova, EO Vorontsova, N. Shilova\",\"doi\":\"10.24075/brsmu.2024.001\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be identified unambiguously by standard cytogenetic methods. A comprehensive approach involving the use of molecular cytogenetic methods is required for the more thorough morphological assessment of such chromosomes, as well as for the development of strategy for genetic counseling of the patients being the sSMC carriers. It is widely accepted that the development of abnormal phenotype by the patients having sSMC in their karyotype is associated with the presence of euchromatic region material in the marker chromosome. Therefore, it results from the presence of relatively large DNA copy number variations (CNVs) in the form of duplication, triplication, and more increased copy numbers; which are localized in the pericentromeric region of the appropriate chromosome. Pericentromeric CNVs can be involved in the chromosome imbalance in asymptomatic carriers of sSMC as well, however, the boundaries of such imbalance have not been clearly identified. The study was aimed to acquire additional information about the genomic topology of the DNA regions insensitive to the genes copy number increase. FISH analysis with commercial and homemade DNA probes was performed in 18 carriers of sSMC 15 and 22 having no clinically significant phenotypic abnormalities. The molecular cytogenetic testing showed that pericentromeric euchromatic regions sized 1.2 Mb and 714 kb, respectively, were found in 33% of cases (6 out of 18). We assume that these regions comprise no potentially dosage-sensitive genes.\",\"PeriodicalId\":9344,\"journal\":{\"name\":\"Bulletin of Russian State Medical University\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.2000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Bulletin of Russian State Medical University\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.24075/brsmu.2024.001\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Bulletin of Russian State Medical University","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.24075/brsmu.2024.001","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0

摘要

小超常标记染色体(sSMC)是结构异常的染色体,无法通过标准细胞遗传学方法明确识别。要对这类染色体进行更全面的形态学评估,并为小超常标记染色体携带者患者制定遗传咨询策略,就需要采用分子细胞遗传学的综合方法。人们普遍认为,核型中含有 sSMC 的患者之所以会出现异常表型,与标记染色体中存在的外色素区域物质有关。因此,这是由于存在相对较大的 DNA 拷贝数变异(CNVs),其形式为复制、三复制和更多的拷贝数增加;这些拷贝数变异位于相应染色体的着丝粒周围区域。在无症状的 sSMC 携带者中,染色体周围的 CNVs 也可能参与染色体失衡,但这种失衡的边界尚未明确确定。本研究旨在获取对基因拷贝数增加不敏感的 DNA 区域的基因组拓扑结构的更多信息。研究人员使用商用和自制的 DNA 探针对 18 名 sSMC 15 携带者和 22 名临床上无明显表型异常的携带者进行了 FISH 分析。分子细胞遗传学检测结果表明,33%的病例(18 例中有 6 例)发现了面积分别为 1.2 Mb 和 714 kb 的近中心染色单体区。我们认为,这些区域不包括潜在的剂量敏感基因。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Molecular cytogenetic characteristics of small supernumerary marker chromosomes 15 and 22 in asymptomatic carriers
Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be identified unambiguously by standard cytogenetic methods. A comprehensive approach involving the use of molecular cytogenetic methods is required for the more thorough morphological assessment of such chromosomes, as well as for the development of strategy for genetic counseling of the patients being the sSMC carriers. It is widely accepted that the development of abnormal phenotype by the patients having sSMC in their karyotype is associated with the presence of euchromatic region material in the marker chromosome. Therefore, it results from the presence of relatively large DNA copy number variations (CNVs) in the form of duplication, triplication, and more increased copy numbers; which are localized in the pericentromeric region of the appropriate chromosome. Pericentromeric CNVs can be involved in the chromosome imbalance in asymptomatic carriers of sSMC as well, however, the boundaries of such imbalance have not been clearly identified. The study was aimed to acquire additional information about the genomic topology of the DNA regions insensitive to the genes copy number increase. FISH analysis with commercial and homemade DNA probes was performed in 18 carriers of sSMC 15 and 22 having no clinically significant phenotypic abnormalities. The molecular cytogenetic testing showed that pericentromeric euchromatic regions sized 1.2 Mb and 714 kb, respectively, were found in 33% of cases (6 out of 18). We assume that these regions comprise no potentially dosage-sensitive genes.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Bulletin of Russian State Medical University
Bulletin of Russian State Medical University MEDICINE, GENERAL & INTERNAL-
CiteScore
0.80
自引率
0.00%
发文量
59
期刊介绍: Bulletin of Russian State Medical University (Bulletin of RSMU, ISSN Print 2500–1094, ISSN Online 2542–1204) is a peer-reviewed medical journal of Pirogov Russian National Research Medical University (Moscow, Russia). The original language of the journal is Russian (Vestnik Rossiyskogo Gosudarstvennogo Meditsinskogo Universiteta, Vestnik RGMU, ISSN Print 2070–7320, ISSN Online 2070–7339). Founded in 1994, it is issued once every two months publishing articles on clinical medicine and medical and biological sciences, first of all oncology, neurobiology, allergy and immunology, medical genetics, medical microbiology and infectious diseases. Every issue is thematic. Deadlines for manuscript submission are announced in advance. The number of publications on topics in spite of the issue topic is limited. The journal accepts only original articles submitted by their authors, including articles that present methods and techniques, clinical cases and opinions. Authors must guarantee that their work has not been previously published elsewhere in whole or in part and in other languages and is not under consideration by another scientific journal. The journal publishes only one review per issue; the review is ordered by the editors.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信