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Related Concept Videos

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%...
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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,...
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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.

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NPC-db, a Niemann-Pick type C disease gene variation database.

Heiko Runz1, Dirk Dolle, Anna Melissa Schlitter

  • 1Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany. Heiko.Runz@med.uni-heidelberg.de

Human Mutation
|December 18, 2007
PubMed
Summary

Niemann-Pick type C (NPC) disease is a rare genetic disorder affecting the nervous system and liver. The NPC-db database now offers a comprehensive resource for understanding NPC1 and NPC2 gene variations and their clinical impact.

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Niemann-Pick type C (NPC) disease is a rare, autosomal-recessive lysosomal storage disorder.
  • It leads to progressive neurological and hepatic dysfunction due to impaired cholesterol and glycosphingolipid transport.
  • Mutations in NPC1 (majority of cases) and NPC2 genes are causative, with numerous variants known, some not associated with disease.

Purpose of the Study:

  • To establish a comprehensive, continuously updated database of gene variations in NPC disease.
  • To provide information on functional consequences, haplotypes, and genotype-phenotype correlations for NPC1 and NPC2 variants.
  • To create an open-access resource for researchers, clinicians, and patients.

Main Methods:

  • Creation of the NPC disease gene variation database (NPC-db).
  • Compilation of sequence variants in NPC1 and NPC2 genes.
  • Integration of functional consequence data, haplotype information, and clinical data from NPC patients.

Main Results:

  • The NPC-db provides a centralized repository for NPC1 and NPC2 gene variants.
  • It includes details on variant function, associated haplotypes, and clinical information.
  • The database facilitates the study of genotype-phenotype correlations in NPC disease.

Conclusions:

  • NPC-db serves as a valuable open-access tool for understanding NPC disease.
  • It aids professionals and nonprofessionals in clinical, diagnostic, and research aspects of NPC.
  • User contributions are encouraged to enhance the database and improve understanding of NPC disease mechanisms.