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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Genome-wide Association Studies-GWAS01:11

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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...
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Single Nucleotide Polymorphisms-SNPs01:05

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Pharmacogenomics: Identification of New Drug Targets01:29

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Related Experiment Video

Updated: May 6, 2026

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

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Pathogenic variants screening in five non-obstructive azoospermia-associated genes.

Chuncheng Lu1, Miaofei Xu, Rong Wang

  • 1State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China.

Molecular Human Reproduction
|October 29, 2013
PubMed
Summary

Genetic variants in SIRPA and SIRPG genes are linked to non-obstructive azoospermia (NOA), a severe male infertility condition. This study identified specific mutations that increase or decrease the risk of NOA, offering new insights into its genetic causes.

Keywords:
genetic variantsnon-obstructive azoospermiaspermatogenic impairment

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Area of Science:

  • Genetics
  • Reproductive Medicine
  • Genomics

Background:

  • Non-obstructive azoospermia (NOA) represents a severe form of male infertility.
  • Genome-wide association studies (GWAS) have identified some risk loci for NOA, but a significant portion of heritability remains unexplained.
  • Investigating rare, low-frequency, and common genetic variants may elucidate causal relationships between candidate genes and NOA.

Purpose of the Study:

  • To identify genetic variants associated with non-obstructive azoospermia (NOA) by examining rare, low-frequency, and common variants.
  • To investigate the roles of SIRPA and SIRPG genes in the etiology of NOA.
  • To provide evidence for independent NOA risk alleles within protein-coding sequences.

Main Methods:

  • A two-stage study was conducted, beginning with deep exon sequencing in 96 NOA cases and 96 controls.
  • A replication study involved a larger cohort of 522 NOA cases and 484 healthy controls.
  • Next-generation sequencing (NGS) was employed to identify mutations in candidate genes.

Main Results:

  • Two rare mutations in SIRPA and four common mutations in SIRPG and SOX5 were identified.
  • A significantly decreased frequency of a heterozygous GA genotype in SIRPA was observed in NOA patients compared to controls (OR 0.47).
  • The rs1048055 variant in SIRPG was associated with a significantly increased risk of spermatogenic impairment (OR 3.93).

Conclusions:

  • The study provides evidence for independent NOA risk alleles within the protein-coding sequences of SIRPA and SIRPG.
  • Genetic variants in SIRPA and SIRPG contribute to the risk of non-obstructive azoospermia.
  • Further large-scale studies and functional characterization are necessary to validate these findings and fully understand their implications.