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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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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.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Sex-linked Disorders01:43

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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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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Incomplete Dominance01:43

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Current recommendations: Screening for Mendelian disorders.

Nancy C Rose1, Myra Wick2

  • 1Intermountain Medical Center, 5121 S Cottonwood St, Maternal Fetal Medicine, Suite D-100, Salt Lake City, UT 84107; University of Utah, Salt Lake City, UT.

Seminars in Perinatology
|December 27, 2015
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Summary
This summary is machine-generated.

Genetic carrier screening for Mendelian disorders has evolved significantly over 50 years. Advances in molecular technology now enable broad, ethnicity-independent screening panels for over 100 conditions.

Keywords:
Mendeliancarrier screeninggenetic screening

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Area of Science:

  • Medical Genetics
  • Molecular Biology
  • Public Health

Background:

  • Carrier screening for Mendelian disorders has evolved over 50 years.
  • Traditional methods relied on ethnicity, which is becoming less defined.
  • Molecular technology advances enable larger, ethnicity-independent screening panels.

Purpose of the Study:

  • To outline the historical progression of carrier screening.
  • To discuss the limitations of traditional ethnicity-based screening.
  • To highlight the impact of molecular technology on modern screening.

Main Methods:

  • Review of historical data on carrier screening practices.
  • Analysis of the evolution of screening technologies.
  • Examination of the shift from single-gene to large-panel screening.

Main Results:

  • Screening expanded from neonates for single disorders (e.g., phenylketonuria) to preconception/prenatal panels for over 100 disorders.
  • Ethnicity-based screening limitations are increasing as ethnic lines blur.
  • Molecular technology facilitates comprehensive screening panels independent of ethnicity.

Conclusions:

  • Carrier screening has transformed from limited, ethnicity-based approaches to broad, molecularly driven panels.
  • Modern genetic screening offers wider coverage for Mendelian disorders.
  • The field is moving towards ethnicity-independent, technologically advanced screening strategies.