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Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
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%...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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...
Genetic Lingo01:11

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Related Experiment Video

Updated: Jun 27, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

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DC-SIGN and DC-SIGNR polymorphic variants in Northern Asian Indians.

O Chaudhary1, R Bhasin, K Luthra

  • 1Department of Biochemistry, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.

International Journal of Immunogenetics
|December 3, 2008
PubMed
Summary
This summary is machine-generated.

Polymorphisms in DC-SIGNR, a protein suggested to aid HIV transmission, were studied in Northern Asian Indians. The DC-SIGNR 7/7 repeat genotype was most common, suggesting potential roles in HIV-1 susceptibility.

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Area of Science:

  • Immunology
  • Genetics
  • Virology

Background:

  • Dendritic cell-specific intercellular adhesion molecule-grabbing nonintegrin-related protein (DC-SIGNR) and DC-SIGN may facilitate HIV infection.
  • These proteins bind to HIV gp120, potentially mediating T cell infection.
  • Understanding genetic variations in these receptors is crucial for HIV susceptibility research.

Purpose of the Study:

  • To investigate the repeat region polymorphisms in DC-SIGN and DC-SIGNR.
  • To analyze the frequency of these polymorphisms in healthy, HIV-1 seronegative Northern Asian Indians.

Main Methods:

  • Polymerase chain reaction (PCR) was used to identify variant polymorphisms.
  • Cloning and sequencing confirmed the identified PCR variants.
  • Genotyping was performed on 100 healthy HIV-1 seronegative individuals.

Main Results:

  • The DC-SIGNR 7/7 repeat genotype was found in 54% of subjects.
  • The heterozygous DC-SIGNR 7/5 variant occurred in 25%, and the 5/5 genotype in 17%.
  • DC-SIGN polymorphisms were rare, with the 7/7 genotype being most frequent.

Conclusions:

  • The DC-SIGNR 7/7 repeat genotype is prevalent in the studied Northern Asian Indian population.
  • Further research with larger cohorts, including HIV-positive individuals, is needed to confirm associations between DC-SIGNR polymorphisms and HIV-1 susceptibility.