相关实验视频

Updated: Jun 16, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

12.9K

在患有原发性和二次性异常症的患者中识别遗传变异

Flora Bai1, Renjini Nambiar1, Chirayu Padhiar1

  • 1From the Department of Biotechnology (Bai), Sathyabama Institute of Science and Technology, Chennai; from the Cytogenetics Department (Bai, Nambiar) and Department of Biologics (Padhiar), LifeCell International Private Ltd, Chennai; from the Department of Biotechnology (Aruni), Amity University, Mumbai, India; from the Department of Community Health Sciences (Veeramani, Alsaif, Al-Numair), College of Applied Medical Sciences, King Saud University, Riyadh, Kingdom of Saudi Arabia; and from the Musculoskeletal Disease Research Centre (Aruni), Loma Linda Veterans Affairs, United States of America.

Saudi medical journal
|June 14, 2025
PubMed
概括

这项研究调查了14至35岁女性缺经 (无月经) 的遗传原因. 异常的型被确定为原发性 amenorrhea 的关键因素,有助于早期诊断和治疗计划.

关键词:
亚美诺雷亚 亚美诺雷亚 是一种染色体异常是一种染色体异常.一个染色体微阵列.临床外基因组测序 临床外基因组测序卡里奥类型的形成.

更多相关视频

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.7K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.0K

相关概念视频

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
13.2K
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
549
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
3.8K