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Related Concept Videos

Types of Genetic Transfer Between Organisms02:18

Types of Genetic Transfer Between Organisms

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Genetic transfer occurs when genetic information is passed from one organism to another. It occurs via two mechanisms: vertical gene transfer and horizontal gene transfer. Vertical gene transfer occurs when genetic information is transferred from one generation to the next, which happens much more frequently than horizontal gene transfer. Both sexual and asexual reproduction are forms of vertical gene transfer, where one or more organisms pass some or all of their genome onto their progeny.
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Evolutionary Relationships through Genome Comparisons02:54

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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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Mutation, Gene Flow, and Genetic Drift01:09

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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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Updated: Apr 30, 2026

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From rumors to genetic isolates.

Eduardo E Castilla1, Lavinia Schuler-Faccini2

  • 1Instituto Nacional de Genética Médica Populacional, Latin American Collaborative Study of Congenital Malformations, Center for Medical Education and Clinical Research, Buenos Aires, Argentina .

Genetics and Molecular Biology
|April 26, 2014
PubMed
Summary
This summary is machine-generated.

A new method uses systematic rumor searches to register genetic isolates in Brazil, identifying 191 validated cases and a prevalence of one per million. The Northeast region showed a higher concentration of these genetic disorder clusters.

Keywords:
Brazildisease clusteringgenetic diseasespopulation registersrumors

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Area of Science:

  • Population Genetics
  • Medical Genetics
  • Public Health Surveillance

Background:

  • Population genetic isolates, often geographic clusters of genetic disorders, require systematic identification methods.
  • Existing methods may not capture the full spectrum of rare genetic conditions within isolated populations.

Purpose of the Study:

  • To propose and evaluate a novel registration process for population genetic isolates based on systematic rumor ascertainment.
  • To establish the conceptual framework and present preliminary findings from Brazil's nationwide registry of genetically isolated populations (CENISO).

Main Methods:

  • Systematic search and recording of rumors (unverified accounts) regarding potential genetic isolates.
  • Validation of registered rumors through a progressive, multi-step process.
  • Analysis of data from the CENISO registry in Brazil from 2009-2013.

Main Results:

  • 191 rumors were registered and validated between 2009 and 2013, yielding a national prevalence rate of one per million inhabitants.
  • The Northeast region of Brazil exhibited a significantly higher prevalence of registered rumors (2.11 per 10^6) compared to other regions.
  • Approximately 45% (86/191) of validated rumors represented confirmed geographic clusters of genetic disorders, including autosomal recessive, autosomal dominant, X-linked, multifactorial, and environmental types.

Conclusions:

  • Rumor-based ascertainment is a viable strategy for identifying and registering population genetic isolates.
  • The CENISO registry provides valuable preliminary data on the distribution and types of genetic disorders in Brazilian population isolates.
  • The findings highlight regional disparities in Brazil, with a higher burden of genetic isolates in the Northeast.