临床特征与母性单亲性染色体6异构相关
Jing-Wen Li1, Yan-Jie Qian1, Shao-Jia Mao1
1Department of Endocrinology, the Children's Hospital of Zhejiang University School of Medicine, No 3333 Binsheng Road, Hangzhou, 310052, China.
Molecular cytogenetics
|July 29, 2024
概括
对于6号染色体 (UPD6mat) 的母性单亲性异构与子宫内生长限制 (IUGR) 密切相关. 这项研究详细介绍了两个新案例,突出了UPD6mat.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 生殖医学 生殖医学
- 发展生物学 发展生物学
背景情况:
- 染色体6 (UPD6mat) 的母亲单亲性异构是一种罕见的遗传疾病.
- 以前的报道表明,UPD6mat与子宫内生长限制 (IUGR) 之间存在联系.
- 与UPD6mat相关的特定临床表型尚未得到很好的定义.
研究的目的:
- 确定与母性单亲性染色体6 (UPD6mat) 异构相关的特定临床表型.
- 调查UPD6mat相关的子宫内生长限制 (IUGR) 背后的机制.
主要方法:
- 从两个新的UPD6病例中分析临床数据.
- 对以前报告的UPD6mat病例的文献数据的审查.
- 基因分析包括识别染色体异常和基因突变 (SCUBE3).
主要成果:
- 孕产妇UPD6mat在85.7%的报告病例中 (在21例中18例) 与子宫内生长限制 (IUGR) 有关.
- 案例1呈现了母性异构和异构6染色体,具有特定的异构性损失区域.
- 案例2涉及在6p21.1-25.1区域的同卵性SCUBE3突变和UPD6mat.
结论:
- 这些发现加强了母亲UPD6mat和IUGR之间的关联.
- 病例2代表了第一例UPD6mat在患有同卵性SCUBE3突变的患者中报告的病例.
- 需要进一步的研究,以充分阐明UPD6mat的特定表型和潜在机制.
更多相关视频
11:54Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
Published on: October 20, 2019
9.1K
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
8.6K
相关概念视频
Genomic Imprinting and Inheritance
34.2K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
34.2K
Meiosis I
193.4K
Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...
193.4K
Karyotyping
59.5K
Overview
59.5K
Nondisjunction
75.4K
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
75.4K
Meiosis vs. Mitosis
54.6K
Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
54.6K
Sex-linked Disorders
101.9K
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.
101.9K
