Related Experiment Video
Updated: Jun 4, 2026
08:54
In vivo Application of the REMOTE-control System for the Manipulation of Endogenous Gene Expression
Published on: March 29, 2019
Use of Intron 40 VNTR I in vWD Gene Tracking.
1Molecular Haemostasis Laboratory, Department of Haematology, Laboratory Medicine Block, The Birmingham Children's Hospital NHS Trust, Birmingham, West Midlands, UK.
Methods in Molecular Medicine
|February 23, 2011
Summary
Common genetic variations called polymorphisms are key to human diversity. Highly variable polymorphisms are essential for accurately tracking genes in genetic disorders.
Area of Science:
- Genetics
- Human Diversity
Background:
- Human diversity is based on common alleles or polymorphisms.
- Polymorphisms closely linked to defective genes aid in tracking genetic disorders.
Purpose of the Study:
- To highlight the importance of polymorphism characteristics in genetic linkage analysis.
- To identify the most effective types of polymorphisms for genetic studies.
Main Methods:
- Review of genetic linkage analysis principles.
- Evaluation of polymorphism characteristics relevant to genetic disorder tracking.
Main Results:
- Common alleles and polymorphisms are fundamental to human genetic diversity.
- The effectiveness of gene tracking in genetic disorders depends on linked polymorphisms.
- Polymorphisms with a large number of alleles are most beneficial for linkage analysis.
Conclusions:
- The selection of appropriate polymorphisms is crucial for successful genetic linkage analysis.
- Highly polymorphic markers significantly enhance the ability to track genes in genetic disorders.
Related Concept Videos
01:05Single 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,...
03:18Non-LTR Retrotransposons
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
03:08LTR Retrotransposons
LTR retrotransposons are class I transposable elements with long terminal repeats flanking an internal coding region. These elements are less abundant in mammals compared to other class I transposable elements. About 8 percent of human genomic DNA comprises LTR retrotransposons. Some of the common examples of LTR retrotransposons are Ty elements in yeast and Copia elements in Drosophila.
The internal coding region of LTR retrotransposons and their mechanism of transposition closely resembles a...
The internal coding region of LTR retrotransposons and their mechanism of transposition closely resembles a...
02:57DNA-only Transposons
DNA-only transposons are called autonomous transposons since they code for the enzyme transposase that is required for the transposition mechanism. Insertion of transposons can alter gene functions in multiple ways. They can mutate the gene, alter gene expression by introducing a novel promoter or insulator sequence, introduce new splice sites, and change the mRNA transcripts produced, or remodel chromatin structure.
The donor site from where the transposon is excised is either degraded or...
The donor site from where the transposon is excised is either degraded or...
02:34DNA Microarrays
Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
02:32Exon 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...
Exon shuffling follows “splice frame rules.” Each exon has three reading...