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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Nondisjunction01:21

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Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
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Nondisjunction01:29

Nondisjunction

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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
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Genomic Imprinting and Inheritance02:30

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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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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Genetic Variants in Recurrent Euploid Pregnancy Loss.

Mona Aminbeidokhti1, Michelle Halstead1, Marta Rodriquez-Escriba1

  • 1Department of Pathology, University of California San Francisco, San Francisco, CA.

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|November 19, 2025
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Summary
This summary is machine-generated.

Genetic variants explain a quarter of unexplained recurrent pregnancy loss (RPL). This study identifies novel genes and inheritance patterns contributing to early pregnancy failure, improving understanding of RPL causes.

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Multiplexed Fluorescent Immunohistochemical Staining of Four Endometrial Immune Cell Types in Recurrent Miscarriage
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Area of Science:

  • Genetics
  • Reproductive Medicine
  • Genomics

Background:

  • Recurrent pregnancy loss (RPL) impacts approximately 5% of women.
  • The genetic underpinnings of euploid RPL, particularly without fetal anomalies, remain largely unknown.
  • Understanding genetic causes is crucial for recurrence risk assessment and potential interventions.

Purpose of the Study:

  • To investigate the genetic basis of unexplained euploid recurrent pregnancy loss.
  • To identify specific genes and variant types associated with RPL.
  • To elucidate inheritance patterns and potential biological pathways involved in early pregnancy failure.

Main Methods:

  • Whole genome sequencing was performed on 118 families with unexplained euploid RPL.
  • Identification and analysis of genomic variants across 28 genes.
  • Transcriptomic analyses to explore gene function and pathway involvement.

Main Results:

  • Genomic variants were identified in 25.4% (30/118) of families across 28 genes.
  • Fifteen novel genes associated with RPL were discovered, alongside thirteen previously linked to perinatal lethality.
  • Inherited variants were prevalent (83.3%), including parental germline mosaicism, heterozygous, hemizygous, and biallelic variants.
  • Ultra-rare biparental variants in novel genes were found in an additional 3.4% of families.
  • Transcriptomic data suggested roles in hematopoiesis, cardiovascular development, inflammation, and fluid homeostasis.

Conclusions:

  • A monogenic basis was identified in approximately 25% of unexplained euploid RPL cases.
  • The study expands the knowledge of genes implicated in early human lethality and RPL.
  • Findings provide insights into recurrence risk and diverse inheritance patterns in recurrent pregnancy loss.