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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
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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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E-Patient Counseling Trial E-PACO: Computer Based Education versus Nurse Counseling for Patients to Prepare for Colonoscopy
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GENETIC COUNSELLING IN FEINGOLD SYNDROME AND A NOVEL MUTATION.

T Atik, M S Güvenç, H Onay

    Genetic Counseling (Geneva, Switzerland)
    |September 12, 2018
    PubMed
    Summary

    Feingold syndrome (FS) is a genetic disorder caused by MYCN gene mutations. This study identifies a novel MYCN mutation in a Feingold syndrome case, impacting genetic counseling and prenatal diagnosis.

    Area of Science:

    • Genetics
    • Medical Genetics
    • Developmental Biology

    Background:

    • Feingold syndrome (FS) is an autosomal dominant disorder.
    • Characteristic features include limb abnormalities, microcephaly, facial dysmorphism, gastrointestinal atresias, and intellectual disability.
    • Mutations in the MYCN gene are the sole known cause of FS.

    Observation:

    • A case of Feingold syndrome was identified.
    • A novel mutation in the MYCN gene was discovered in this patient.
    • The patient's mother was pregnant, necessitating discussions on genetic counseling and prenatal diagnosis.

    Findings:

    • The study presents a novel MYCN gene mutation associated with Feingold syndrome.
    • This finding expands the known spectrum of MYCN mutations causing FS.

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  • The identification of a new mutation underscores the importance of MYCN in FS pathogenesis.

    • Implications:

    • This discovery aids in understanding the genetic basis of Feingold syndrome.
    • It provides crucial information for genetic counseling of affected families.
    • The findings are vital for accurate prenatal diagnosis in pregnancies at risk for FS.