特发性少精症（OAT）46,XX/46,XY 患者孤雌生殖嵌合体的分子分析。

IF 1.7 4区生物学 Q4 CELL BIOLOGY

Cytogenetic and Genome Research Pub Date : 2024-01-01 Epub Date: 2024-03-18 DOI:10.1159/000538396

Yunjie He, Yuying Yan, Yuanyuan Lv, Jian Zeng

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引用次数: 0

摘要

导言孤雌生殖嵌合体在人类中极为罕见。目前已发现的具有 XX/XY 细胞的孤雌生殖嵌合体患者极少。病例介绍我们报告了一名特发性少精子症（OAT）患者46,XX/46,XY核型嵌合体的临床发现和分子分析。为了明确嵌合体的形成机制，研究人员对 21 个基因位点进行了短串联重复（STR）分析。对D6S1043、D12S391、纤维蛋白原α链（FGA）和Amelogenin中的等位基因进行定量分析后发现，该患者有两个父方基因和一个母方基因，这与孤雌生殖嵌合体一致。会议还讨论了嵌合体形成的可能机制，随后进行了文献综述。结论这是第一例记录在案的孤雌生殖嵌合体病例，患者为成年男性，细胞为 XX/XY 型，表现为 OAT。有必要改进细胞取样和更敏感、更特异的检测方法，以确定更多的 XX/XY 嵌合体患者，以便将来对这种情况进行系统研究。

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Molecular Analysis of Parthenogenetic Chimerism in a 46,XX/46,XY Patient with Idiopathic Oligoasthenoteratozoospermia.

Introduction: Parthenogenetic chimera is an extremely rare condition in human. Very few patients with parthenogenetic chimerism with XX/XY cells have been identified.

Case presentation: We report the clinical findings and molecular analysis of chimerism with a 46,XX/46,XY karyotype in a patient presenting idiopathic oligoasthenoteratozoospermia (OAT). To clarify the mechanism of chimera formation, short tandem repeat analysis using 21 loci was carried out. Quantitation of alleles in D6S1043, D12S391, fibrinogen alpha chain, and amelogenin revealed double paternal and one maternal genetic contribution to the patient, which is consistent with a parthenogenetic chimerism. The likely mechanism of chimerism formation was also discussed, followed by a literature review.

Conclusion: This is the first documented case of parthenogenetic chimerism in an adult male with XX/XY cells presenting OAT. Improved cell sampling and more sensitive and specific detection methods are necessary to identify more patients with XX/XY chimerism for systematic studies on this condition in the future.

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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.