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Related Concept Videos

Chromosome Structure02:40

Chromosome Structure

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A functional eukaryotic chromosome must contain three elements: a centromere, telomeres, and numerous origins of replication.
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In 1882, Flemming observed lampbrush chromosomes (LBC) in salamander eggs. Later in 1892, Rückert observed LBCs in shark egg cells and coined the term "lampbrush chromosomes" because they looked like brushes used to clean kerosene lamps.
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Polytene Chromosomes02:04

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Polytene chromosomes are giant interphase chromosomes with several DNA strands placed side by side. They were discovered in the year 1881 by Balbiani in salivary glands, intestine, muscles, malpighian tubules, and hypoderm of larvae Chironomus plumosus. Hence, these are also called "Salivary gland chromosomes." These are found in insects of the order Diptera and Collembola; in certain organs of mammals; and synergids, antipodes of flowering plants. Polytene chromosomes are also...
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Before a cell can divide, it must accurately replicate all of its chromosomes, including the DNA and its associated histone and non-histone proteins.  This process begins at numerous origins of replication during the S phase of the cell cycle in each of a cell’s chromosomes simultaneously. Certain nucleotides can act as origins of replication, but these sequences are not well defined - especially in complex, multi-cellular, eukaryotic species. The length of DNA that spans an origin...
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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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Abnormal Proliferation02:23

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Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
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Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
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Detection of chromosome abnormalities using current noninvasive prenatal testing: A multi-center comparative study.

Yan Du1,2,3, Jing Lin1,3,4, Likun Lan5

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|June 29, 2018
PubMed
Summary

Noninvasive prenatal testing (NIPT) effectively screens for fetal chromosome abnormalities. Second-generation NIPT showed higher detection rates for aneuploidies and subchromosome changes compared to first-generation NIPT.

Keywords:
Noninvasive prenatal testing (NIPT)chromosome aneuploidiesprenatal testingsubchromosome deletions/duplications

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Area of Science:

  • Genetics
  • Prenatal Diagnostics
  • Molecular Biology

Background:

  • Noninvasive prenatal testing (NIPT) is a rapidly advancing field in antenatal care.
  • NIPT utilizes cell-free fetal DNA from maternal blood for genetic screening.
  • Evaluating different NIPT generations is crucial for optimizing clinical application.

Purpose of the Study:

  • To compare the clinical utility and outcomes of two NIPT generations.
  • To assess the detection rates of fetal chromosome abnormalities using first and second-generation NIPT.
  • To analyze the diagnostic accuracy following NIPT in a high-risk population.

Main Methods:

  • A cohort of 7,252 pregnant women from 21 hospitals participated.
  • Maternal blood samples were analyzed using first-generation NIPT for aneuploidies and second-generation NIPT for subchromosome abnormalities.
  • Amniocentesis was performed for confirmation of abnormal NIPT results.

Main Results:

  • Abnormal NIPT results were reported in 0.90% (Group I) and 2.68% (Group II).
  • First-generation NIPT confirmed trisomy 21, 18, and sex chromosome abnormalities with 100% accuracy in confirmed cases.
  • Second-generation NIPT identified aneuploidies and subchromosome abnormalities, including trisomy 21 and 5p deletion syndrome.

Conclusions:

  • Noninvasive prenatal testing is a reliable screening tool for fetal chromosomal abnormalities.
  • Second-generation NIPT demonstrates broader detection capabilities for subchromosome variations.
  • Further research is needed to address challenges in the comprehensive clinical implementation of NIPT.