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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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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Human Genetics01:28

Human Genetics

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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.
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Comparing Copy Number Variations and SNPs02:26

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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%...
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Pleiotropy01:33

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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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.
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Translation01:31

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Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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Updated: May 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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SLC19A1 Gene Polymorphism; Risk Factor for Preeclampsia.

Iram Nasir1, Amena Rahim1, Muhammad Afzal1

  • 1Department of Biochemistry, Islamic International Medical College, Riphah International University, Rawalpindi, Pakistan.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|March 7, 2025
PubMed
Summary
This summary is machine-generated.

The SLC19A1 (rs1051296 G>T) polymorphism is linked to preeclampsia risk in Pakistani women. Specific genotypes (CA and AA) increase susceptibility, while CC genotype offers protection, with low folic acid exacerbating risk.

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Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
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Area of Science:

  • Genetics
  • Obstetrics
  • Biochemistry

Background:

  • Preeclampsia (PE) is a serious pregnancy complication characterized by high blood pressure.
  • Genetic factors, including single nucleotide polymorphisms (SNPs), play a role in PE susceptibility.
  • The SLC19A1 gene is involved in folate transport, crucial for maternal health during pregnancy.

Purpose of the Study:

  • To investigate the genotypic and allelic frequencies of the SLC19A1 (rs1051296 G>T) polymorphism in Pakistani preeclamptic and normotensive pregnant women.
  • To determine the association between SLC19A1 (rs1051296 G>T) genotypes and homocysteine (Hcy) and folate levels in preeclamptic patients.
  • To evaluate the clinical significance of this polymorphism in the context of preeclampsia.

Main Methods:

  • A case-control study involving 166 preeclamptic patients and 166 controls.
  • DNA extraction from maternal venous blood using the Chelex method.
  • Analysis of SLC19A1 (rs1051296 G>T) polymorphism using allele-specific polymerase chain reaction (PCR).
  • Statistical analysis using Chi-square and Student's t-test.

Main Results:

  • The CA and AA genotypes of SLC19A1 (rs1051296 G>T) were significantly associated with increased susceptibility to preeclampsia (p <0.03 and p <0.001, respectively).
  • The CC genotype showed a significant protective association against preeclampsia.
  • Low folic acid levels combined with the CA genotype emerged as a significant risk factor for PE (p <0.05).
  • No significant association was found between a prior family history of high blood pressure and the SLC19A1 polymorphism (p <0.6).

Conclusions:

  • The SLC19A1 (rs1051296 G>T) polymorphism is a significant risk factor for preeclampsia in the Pakistani population.
  • Genotype variations influence PE susceptibility and protection.
  • Folate status interacts with SLC19A1 genotype to modulate PE risk.