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Related Concept Videos

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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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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Related Experiment Video

Updated: Jan 9, 2026

FISH for Pre-implantation Genetic Diagnosis
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Lifesaving Diagnosis Through Prenatal Genomic Sequencing.

Andrew P Fennell1, Tony Roscioli, Michael Buckley

  • 1Monash Genetics, Melbourne, Victoria (A.P.F.); New South Wales Health Pathology Randwick Genomics, Sydney (T.R., M.B.); Monash Children's Hospital, Melbourne, Victoria (A.E.H., P.P., L.M.C.); and Neuroscience Research Australia, Sydney (S.L.), Australia.

Obstetrical & Gynecological Survey
|December 11, 2025
PubMed
Summary

Congenital thrombotic thrombocytopenic purpura (TTP) is a rare genetic disorder. It is caused by a deficiency in the ADAMTS13 enzyme, leading to severe blood clotting complications.

Area of Science:

  • Hematology
  • Genetics
  • Rare Diseases

Background:

  • Congenital thrombotic thrombocytopenic purpura (TTP) is a rare inherited thrombotic microangiopathy.

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  • It results from a deficiency in the ADAMTS13 enzyme, crucial for regulating von Willebrand factor.
  • This deficiency leads to the accumulation of ultralarge von Willebrand factors, causing microvascular thrombosis.