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Related Concept Videos

Chromosomal Theory of Inheritance01:39

Chromosomal Theory of Inheritance

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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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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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Non-nuclear Inheritance01:29

Non-nuclear Inheritance

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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.
Each gene exists in pairs, and the combination of these genes from both parents forms an individual's genotype. This genotype is a blueprint of potential traits. Examples of genotype...
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Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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A Simple and Low-cost Assay for Measuring Ambulation in Mouse Models of Muscular Dystrophy
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Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding.

Stephen H Tsang1,2, Tarun Sharma3

  • 1Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

Advances in Experimental Medicine and Biology
|December 23, 2018
PubMed
Summary
This summary is machine-generated.

Genetic testing analyzes DNA to identify mutations linked to diseases. Results from blood, saliva, or tissue samples guide medical decisions and family discussions with healthcare providers.

Keywords:
Genetic testingInherited retinal dystrophy

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Area of Science:

  • Medical Genetics
  • Molecular Biology
  • Diagnostic Medicine

Background:

  • Genetic diseases arise from alterations in DNA.
  • Early detection of genetic mutations is crucial for timely intervention.
  • Understanding genetic predispositions aids in personalized medicine.

Purpose of the Study:

  • To define the scope and methodology of genetic testing.
  • To elucidate the role of genetic testing in disease identification.
  • To outline the process of genetic test result interpretation and communication.

Main Methods:

  • Analysis of deoxyribonucleic acid (DNA) samples.
  • Collection of various biological specimens including blood, saliva, hair, skin, and amniotic fluid.
  • Interpretation of genetic variations and mutations.

Main Results:

  • Genetic testing identifies specific genetic changes or mutations.
  • Test results are documented in written reports.
  • Identified mutations can indicate a predisposition to certain genetic disorders.

Conclusions:

  • Genetic testing is a vital diagnostic tool for identifying genetic diseases.
  • The process involves DNA analysis from diverse biological samples.
  • Clear communication of results between healthcare professionals, patients, and families is essential for effective management.