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Mutations01:39

Mutations

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Mutations01:35

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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.
Chromosomal Alterations Are Large-Scale Mutations
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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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In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.  
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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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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 novel CASR mutation (p.Glu757Lys) causing autosomal dominant hypocalcaemia type 1

Benjamin Kwan1,2, Bernard Champion1,3, Steven Boyages1,4

  • 1University of Sydney, Sydney, New South Wales, Australia.

Endocrinology, Diabetes & Metabolism Case Reports
|October 12, 2018
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Autosomal dominant hypocalcaemia type 1 (ADH1) is a rare genetic disorder caused by CASR gene mutations. This study identifies a novel mutation in an Australian family, emphasizing genetic diagnosis for effective management and family screening.

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Area of Science:

  • Genetics
  • Endocrinology
  • Calcium Metabolism

Background:

  • Autosomal dominant hypocalcaemia type 1 (ADH1) is a rare genetic disorder.
  • It is characterized by low serum calcium and parathyroid hormone (PTH) levels.
  • ADH1 results from activating mutations in the Calcium-Sensing Receptor (CASR) gene.

Purpose of the Study:

  • To describe a novel heterozygous missense mutation in CASR causing ADH1 in an Australian family.
  • To highlight the clinical manifestations and genetic basis of ADH1.
  • To emphasize the importance of genetic diagnosis for patient management and family screening.

Main Methods:

  • Clinical case description of an Australian family with ADH1.
  • Identification and characterization of a novel CASR mutation.
  • Review of clinical symptoms, biochemical parameters, and family history.

Main Results:

  • A novel heterozygous missense mutation in CASR was identified in the affected family.
  • Affected individuals presented with mild neuromuscular symptoms like paraesthesia and carpopedal spasm.
  • Basal ganglia calcification was observed in three out of four affected family members.

Conclusions:

  • Genetic confirmation of CASR mutations is crucial for diagnosing ADH1.
  • Early diagnosis enables proper management, including calcium and calcitriol supplementation for symptomatic patients.
  • Genetic counseling and screening of family members are essential for managing this rare familial disorder.