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Related Concept Videos

Fetal Circulation01:14

Fetal Circulation

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Fetal circulation is a unique system that facilitates the exchange of gases, nutrients, and waste products between the developing fetus and the mother. This intricate process takes place through a special organ called the placenta.
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DNA Topoisomerases02:02

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Topoisomerases are enzymes that relax overwound DNA molecules during various cell processes, including DNA replication and transcription. These enzymes regulate positive and negative DNA supercoiling without changing the nucleotide sequence. DNA overwinding in a clockwise direction results in positively supercoiled DNA, whereas underwinding in a counterclockwise direction produces negatively supercoiled DNA.
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DNA Helicases00:55

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DNA unwinding helicase enzymes are a type of motor protein. Motor proteins can translocate along filaments or polymers using energy generated from ATP hydrolysis. Helicases are involved in all the important cellular processes where DNA unwinding is required, such as DNA replication, repair, recombination, and transcription. They are present in all living organisms, but vary in their structure, function, and mechanism of action. For example, in prokaryotes, DnaB helicase binds and translocates...
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DNA Replication02:40

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DNA replication involves the separation of the two strands of the double helix, with each strand serving as a template from which the new complementary strand is copied.  After replication, each double-stranded DNA includes one parental or “old” strand and one “new” strand. This is known as semiconservative replication. The resulting DNA molecules have the same sequence and are divided equally into the two daughter cells.
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DNA-only transposons are called autonomous transposons since they code for the enzyme transposase that is required for the transposition mechanism. Insertion of transposons can alter gene functions in multiple ways. They can mutate the gene, alter gene expression by introducing a novel promoter or insulator sequence, introduce new splice sites, and change the mRNA transcripts produced, or remodel chromatin structure.
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Non-invasive Prenatal Testing Using Fetal DNA.

Giulia Breveglieri1, Elisabetta D'Aversa1, Alessia Finotti1,2

  • 1Department of Life Sciences and Biotechnology, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy.

Molecular Diagnosis & Therapy
|February 4, 2019
PubMed
Summary
This summary is machine-generated.

Non-invasive prenatal diagnosis (NIPD) analyzes fetal DNA from maternal blood, offering a safer alternative to invasive methods. Advanced techniques enable detection of various fetal conditions and promise future insights into maternally inherited genetic diseases.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Obstetrics

Background:

  • Non-invasive prenatal diagnosis (NIPD) utilizes cell-free fetal DNA (ccffDNA) found in maternal plasma.
  • Conventional invasive prenatal diagnostic techniques carry inherent risks.
  • ccffDNA levels in maternal plasma are low, necessitating optimized purification and detection methods.

Purpose of the Study:

  • To review the characteristics of ccffDNA.
  • To outline current applications of NIPD.
  • To discuss emerging NIPD technologies and future potential.

Main Methods:

  • Analysis of circulating cell-free fetal DNA (ccffDNA) in maternal plasma.
  • Application of advanced molecular techniques including digital PCR (dPCR) and next-generation sequencing (NGS).

Main Results:

  • NIPD can accurately determine fetal sex, RhD status, aneuploidies, and micro-deletions.
  • Detection of paternally inherited monogenic disorders is feasible.
  • Innovative technologies like dPCR and NGS offer enhanced sensitivity and whole-genome analysis capabilities.

Conclusions:

  • NIPD based on ccffDNA analysis is a rapidly advancing field.
  • Current NIPD applications are expanding, with future potential for detecting maternally inherited genetic diseases.
  • Optimized ccffDNA purification and sensitive detection methods are critical for NIPD success.