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Updated: Jun 23, 2025

Serum and Plasma Copy Number Detection Using Real-time PCR
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Serum and Plasma Copy Number Detection Using Real-time PCR

Published on: December 15, 2017

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在46,XY性别发育病例中的差异中检测雄激素受体基因的分子变异

Nanis S Marzuki1, Hannie D Kartapradja1, Farah N Coutrier1

  • 1Eijkman Research Center for Molecular Biology, Research Organization for Health, National Research and Innovations Agency, Cibinong, Indonesia.

Indian journal of endocrinology and metabolism
|June 24, 2024
PubMed
概括

在46,XY DSD病例中,雄激素不敏感综合征 (AIS) 通常是由AR基因变异引起的. 这项研究在13例病例中发现了两种新型AR基因变异,突出显示了分子测试的必要性.

关键词:
46,XY DSD 的使用情况基因 AR 基因 AR 基因雄激素不敏感综合征是什么

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相关概念视频

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The Y Chromosome Determines Maleness

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
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
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In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.  
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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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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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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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