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Updated: Jul 28, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

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一种新的ADGRG2截断变异与X链阻塞性亚精子症相关,在一个大型的中国血统中

Yinghong Lu1, Yuling Xie1, Mei Li1

  • 1Department of Clinical Laboratory, Yulin Women and Children Health Care Hospital, Yulin, Guangxi Zhuang Autonomous Region, Yulin, 537000, People's Republic of China.

Journal of assisted reproduction and genetics
|June 5, 2023
PubMed
概括

一个新的ADGRG2基因突变导致一个中国家庭的男性不孕症. 这种从母亲遗传的基因变异具有多种表型,并且在细胞内质精子注射 (ICSI) 中的成功率很低.

关键词:
在 ADGRG2 中,这是CBAVD.男人不孕不育的情况阻塞性阿佐精子缺血症是一种阻塞性阿佐精子缺血.

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The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
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