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Related Concept Videos

What is Population Genetics?01:25

What is Population Genetics?

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A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
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Hardy-Weinberg Principle01:49

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Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.
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Next-generation Sequencing03:00

Next-generation Sequencing

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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The Concept of Multiple Allelism
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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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Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
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ABO allele-level frequency estimation based on population-scale genotyping by next generation sequencing.

Kathrin Lang1, Ines Wagner1, Bianca Schöne1

  • 1DKMS Life Science Lab, Blasewitzer Str. 43, 01307, Dresden, Germany.

BMC Genomics
|May 22, 2016
PubMed
Summary

A new, cost-effective next-generation sequencing method enables high-throughput ABO genotyping. This approach allows for population-scale molecular ABO characterization, identifying numerous novel alleles.

Keywords:
ABOAmpliconBlood groupGenotypingIlluminaNGS

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Area of Science:

  • Genetics
  • Molecular Biology
  • Immunogenetics

Background:

  • ABO blood group characterization is crucial for transfusion and transplantation.
  • Existing molecular methods are not suitable for large-scale population analysis.

Purpose of the Study:

  • To develop a cost-effective, high-throughput method for ABO genotyping.
  • To enable population-scale molecular ABO characterization.

Main Methods:

  • Utilized next-generation sequencing with sample-specific barcodes and adaptors.
  • Applied PCR and direct sequencing on Illumina platforms.
  • Achieved complete sequence coverage of ABO gene exons 6 and 7.

Main Results:

  • Successfully genotyped over one million samples.
  • Determined ABO allele group frequencies in over 110,000 German individuals.
  • Discovered 287 novel ABO alleles.

Conclusions:

  • The developed workflow provides high-resolution ABO genotyping at low cost.
  • Enables unprecedented population-scale molecular ABO characterization.
  • Facilitates detailed genetic analysis of ABO blood group diversity.