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Related Concept Videos

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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Chromosomal Theory of Inheritance01:39

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In 1866, Gregor Mendel published the results of his pea plant breeding experiments, providing evidence for predictable patterns in the inheritance of physical characteristics. The significance of his findings was not immediately recognized. In fact, the existence of genes was unknown at the time. Mendel referred to hereditary units as “factors.”
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Inheritance of Chromatin Structures03:17

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Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying...
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Non-nuclear Inheritance01:29

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Most DNA resides in the nucleus of a cell. However, some organelles in the cell cytoplasm⁠—such as chloroplasts and mitochondria⁠—also have their own DNA. These organelles replicate their DNA independently of the nuclear DNA of the cell in which they reside. Non-nuclear inheritance describes the inheritance of genes from structures other than the nucleus.
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Inheritance01:25

Inheritance

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Gregor Mendel's pioneering work on the principles of inheritance fundamentally transformed our understanding of how traits are transmitted from generation to generation. His experiments with pea plants laid the groundwork for the discovery of genes, discrete units within organisms that control heredity.
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Conditions on Early Earth02:06

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Around 4 billion years ago, oceans began to condense on earth while volcanic eruptions released nitrogen, carbon dioxide, methane, ammonia, and hydrogen into the primordial atmosphere. However, organisms with the characteristics of life were not initially present on earth. Scientists have used experimentation to determine how organisms evolved that could grow, reproduce, and maintain an internal environment.
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High-throughput Screening for Protein-based Inheritance in S. cerevisiae
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Never too old for an inherited condition.

Philip Robinson1,2

  • 1Department of Respiratory and Sleep Medicine, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

Internal Medicine Journal
|October 6, 2018
PubMed
Summary

Primary ciliary dyskinesia (PCD) is a rare inherited disorder causing progressive lung disease. Delayed diagnosis in adults highlights the need for increased medical awareness and access to specialized testing for effective treatment.

Keywords:
bronchiectasisdelayed diagnosisprimary ciliary dyskinesia

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Area of Science:

  • Medical Science
  • Genetics
  • Pulmonology

Background:

  • Primary ciliary dyskinesia (PCD) is an inherited disorder affecting cilia function.
  • It leads to progressive suppurative airway disease, chronic rhinosinusitis, hearing loss, and reduced fertility.

Observation:

  • Diagnosis of PCD is often delayed due to low medical awareness and limited access to diagnostic centers in Australia.
  • This report presents two adult cases with long-standing medical interactions but a late diagnosis of PCD.
  • The condition was either overlooked or dismissed during previous medical consultations.

Findings:

  • Late diagnosis of primary ciliary dyskinesia can occur even in patients with extensive medical history.
  • Lack of awareness and diagnostic accessibility contribute significantly to diagnostic delays.

Implications:

  • Increased awareness of PCD among healthcare professionals is crucial for timely diagnosis.
  • Early diagnosis facilitates the cessation of ineffective treatments and the initiation of targeted therapies.
  • Improved access to specialized diagnostic services is essential for managing PCD effectively.