基因组技术和对46,XY性别发展差异的诊断
Firman Idris1,2, Andrew H Sinclair1,2, Katie L Ayers1,2
1The Murdoch Children's Research Institute, Melbourne, Australia.
Andrology
|July 31, 2024
概括
对46,XY差异/性别发育障碍 (DSD) 的遗传诊断对于临床护理至关重要. 尽管基因组学取得了进展,但诊断率仍低于50%,这凸显了需要改进技术的需要.
科学领域:
- 生殖生物学 生殖生物学
- 遗传学 遗传学 是一个
- 内分泌学 在内分泌学.
背景情况:
- 性发育的差异/障碍 (DSD) 影响生殖器官发育,影响1:100活产.
- 46,XY DSD涉及分子和细胞机制的破坏,导致不同的临床表型.
- 准确的基因诊断对于指导临床管理和计划生育至关重要 46,XY DSD.
研究的目的:
- 审查 46,XY差异/性别发育障碍的分子原因.
- 讨论用于诊断46,XY DSD的当前基因组技术.
- 探索在46,XY DSD中改善诊断率的挑战和未来技术.
主要方法:
- 文献综述侧重于过去5年的报道.
- 对导致46,XY DSD的分子和遗传因素的分析.
- 评估当前和新兴的基因组诊断技术.
主要成果:
- 基因组技术已经进步,但46,XY DSD的诊断率已经停滞在50%以下.
- 多个基因参与了46,XY DSD,导致了一系列的临床表现.
- 对于许多个体来说,实现确定的遗传诊断仍然存在挑战.
结论:
- 改善46,XY DSD的诊断率对于有效的患者护理至关重要.
- 新的和未来的基因组技术有望提高诊断准确度.
- 对46,XY DSD的遗传和分子基础的持续研究至关重要.
相关概念视频
X and Y Chromosomes
24.3K
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.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
24.3K
Karyotyping
59.5K
Overview
59.5K
The Y Chromosome Determines Maleness
6.5K
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....
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....
6.5K
Genomics
36.2K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
36.2K
Development of the Sexual Organs in the Embryo and Fetus
621
Development of the reproductive organs in an embryo starts from a bipotential state. This means the early embryo can develop either male or female reproductive organs. The formation of these organs begins with the growth of gonadal ridges that arise from the intermediate mesoderm during the fifth week of development.
Near the gonadal ridges, two duct systems are present: the mesonephric ducts (Wolffian ducts) and paramesonephric ducts (Müllerian ducts). These ducts form the basis for the...
Near the gonadal ridges, two duct systems are present: the mesonephric ducts (Wolffian ducts) and paramesonephric ducts (Müllerian ducts). These ducts form the basis for the...
621
Pedigree Analysis
84.2K
Overview
84.2K


