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Novel compound heterozygous mutation in a sporadic family associated with spermatogenetic failure.

作者信息

Chen Jie, Li Feng-Hua, Zhang Xue-Bao, Du Zhao-Li, Jin Yin-Shan, Cui Yuan-Qing, Wang Xiong

机构信息

Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai 264000, China.

Yinfeng Gene Technology Co., Ltd., Jinan 250000, China.

出版信息

Asian J Androl. 2023;25(4):544-546. doi: 10.4103/aja202280.

DOI:10.4103/aja202280
PMID:36348580
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10411250/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/557d/10411250/5a037801bc36/AJA-25-544-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/557d/10411250/5a037801bc36/AJA-25-544-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/557d/10411250/5a037801bc36/AJA-25-544-g001.jpg

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本文引用的文献

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Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.通过外显子组分析对精子发生阻滞进行遗传剖析：对无精子症男性治疗的临床意义。
Genet Med. 2020 Dec;22(12):1956-1966. doi: 10.1038/s41436-020-0907-1. Epub 2020 Aug 3.
2
Next-generation sequencing: toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure.下一代测序：提高疑似特发性生精功能障碍患者的诊断产量。
Asian J Androl. 2021 Jan-Feb;23(1):24-29. doi: 10.4103/aja.aja_25_20.
3
A MEI1 homozygous missense mutation associated with meiotic arrest in a consanguineous family.
一个与同系家族中减数分裂阻滞相关的 MEI1 纯合错义突变。
Hum Reprod. 2018 Jun 1;33(6):1034-1037. doi: 10.1093/humrep/dey073.
4
Genetics of male infertility.男性不育的遗传学。
Nat Rev Urol. 2018 Jun;15(6):369-384. doi: 10.1038/s41585-018-0003-3.
5
Spermatogenesis in humans and its affecting factors.人类精子发生及其影响因素。
Semin Cell Dev Biol. 2016 Nov;59:10-26. doi: 10.1016/j.semcdb.2016.04.009. Epub 2016 Apr 30.
6
Molecular characterization and epigenetic regulation of Mei1 in cattle and cattle-yak.牛和犏牛中Mei1的分子特征与表观遗传调控
Gene. 2015 Nov 15;573(1):50-6. doi: 10.1016/j.gene.2015.07.021. Epub 2015 Jul 10.
7
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
8
EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013.EAA/EMQN 分子诊断 Y 染色体微缺失最佳实践指南：2013 年最新进展。
Andrology. 2014 Jan;2(1):5-19. doi: 10.1111/j.2047-2927.2013.00173.x.
9
Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest.人类MEI1基因的多态性等位基因与减数分裂停滞导致的人类无精子症相关。
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