Molecular Cytogenetic Characterization of Rare but Repeatedly Observed Inversions in German Population.

IF 1.7 4区生物学 Q4 CELL BIOLOGY

Cytogenetic and Genome Research Pub Date : 2024-01-01 Epub Date: 2024-05-24 DOI:10.1159/000539447

Joana Seixas, Niklas Padutsch, Stefanie Kankel, Thomas Liehr, Alody Sy

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引用次数: 0

Abstract

Introduction: The term inversion refers to an aberration caused by two breakage and fusion events found in one or both arms of a chromosome. The presence of such aberrations can but must not be associated with infertility or unbalanced products of conception. Normally, inversions are not associated with phenotypic alterations for the carrier. Despite the fact that most such inversions are de novo and unique, recurrent breakpoints have also been reported.

Methods: Here two recurrent paracentric inversions in the long arm of chromosomes 11 and 12 and a pericentric one in chromosome 10 were studied in at least 10 unrelated (infertile) patients, each. Breakpoints were narrowed down by fluorescence in situ hybridization applying locus-specific bacterial artificial chromosome-derived probes.

Results: Molecular cytogenetically identical breakpoints could be characterized for all three studied inversions. Pericentric inversion inv(10)(p11.21q21.2), previously reported to be of single origin and distributed mainly in Northern Europe, could be found to be present all over Germany, too. In the studied cases with paracentric inversion inv(11)(q21q23.3), recurrent breakpoints were found in all parts of Germany, as well; however, additional 2 cases with slightly different breakpoints were characterized besides. Most interestingly, inversion inv(12)(q14.1∼14.2q24.11∼24.13) had always the same recurrent breakpoints and presented an exclusive occurrence in North-Western part of Germany.

Conclusion: Overall, (at least) three different cytogenetically detectable recurrent inversions were characterized here. This highlights that such events may be more frequent in human population than yet suggested. Accordingly, such events might even spread in (middle European) human population. Specific impact on reproduction and fitness of inversion carriers characterized here seems to be negligible. Nonetheless, such recurrent rearrangements need more attention as they may provide valuable information for genetic counseling in future.

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德国人口中罕见但反复出现的倒位现象的分子细胞遗传学特征。

导言倒位是指染色体的一条臂或两条臂上出现两个断裂和融合事件而导致的畸变。这种畸变的存在可能但不一定与不孕或受孕产物不平衡有关。在正常情况下，倒位与携带者的表型改变无关。方法：本文研究了至少 10 名无血缘关系（不育）患者的 11 号和 12 号染色体长臂上的两个复发性旁中心倒位和 10 号染色体上的一个近中心倒位。通过荧光原位杂交技术，应用基因座特异性细菌人工染色体衍生探针，缩小了断裂点的范围：结果：所研究的三种倒位均可确定分子细胞遗传学上相同的断裂点。周室倒位 inv(10)(p11.21q21.2)以前被报道为单一来源，主要分布在北欧，但在德国也发现了这种倒位。在研究的旁中心倒位 inv(11)(q21q23.3)病例中，德国各地也都发现了复发性断点；不过，还有两个病例的断点略有不同。最有趣的是，反转 inv(12)（q14.1~14.2q24.11~24.13）的复发断点始终相同，并且只出现在德国西北部地区：结论：总体而言，这里发现了（至少）三种不同的细胞遗传学可检测到的复发性倒位。结论：总体而言，本文（至少）描述了三种不同的细胞遗传学可检测到的复发性倒位，这突出表明此类事件在人类群体中的发生率可能比目前认为的要高。因此，此类事件甚至可能在（中欧）人类中蔓延。本文所描述的倒位携带者对繁殖和健康的具体影响似乎可以忽略不计。尽管如此，这种反复出现的重排仍需要更多的关注，因为它们可能为未来的遗传咨询提供有价值的信息。

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来源期刊

Cytogenetic and Genome Research 生物-细胞生物学

CiteScore

3.10

自引率

5.90%

发文量

审稿时长

1 months

期刊介绍： During the last decades, ''Cytogenetic and Genome Research'' has been the leading forum for original reports and reviews in human and animal cytogenetics, including molecular, clinical and comparative cytogenetics. In recent years, most of its papers have centered on genome research, including gene cloning and sequencing, gene mapping, gene regulation and expression, cancer genetics, comparative genetics, gene linkage and related areas. The journal also publishes key papers on chromosome aberrations in somatic, meiotic and malignant cells. Its scope has expanded to include studies on invertebrate and plant cytogenetics and genomics. Also featured are the vast majority of the reports of the International Workshops on Human Chromosome Mapping, the reports of international human and animal chromosome nomenclature committees, and proceedings of the American and European cytogenetic conferences and other events. In addition to regular issues, the journal has been publishing since 2002 a series of topical issues on a broad variety of themes from cytogenetic and genome research.