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Mutations

Mutations

Mutations

Mutations

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
While point mutations are changes in a single nucleotide in...

Mutations

Mutations

Translation

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life

Translation

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life

Point and Frameshift Mutations

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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[Familial hypocalciuric hypercalcemia: a new mutation].

M Ubetagoyena Arrieta¹, L Castaño González, G Pérez de Nanclares Leal

¹Sección de Nefrología Pediátrica, Osakidetza, Hospital Universitario Donostia, San Sebastián, Spain. m.mercedes.ubetagoyenaarrieta@osakidetza.net

Anales De Pediatria (Barcelona, Spain : 2003)

|December 28, 2010

Summary

This summary is machine-generated.

Familial hypocalciuric hypercalcemia (FHH) is a genetic disorder causing high calcium levels. Genetic testing of the calcium-sensing receptor gene (CASR) confirms FHH, distinguishing it from other conditions.

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Area of Science:

Genetics
Endocrinology
Molecular Biology

Background:

Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder characterized by hypercalcemia.
Mutations in the calcium-sensing receptor (CaSR) gene are the primary cause of FHH.
Mild hypercalcemia in heterozygous cases often leads to incidental diagnosis.

Observation:

This report details three children with inactivating heterozygous mutation p.Phe789del in the CASR gene.
The mutation affects exon 7 of the CASR gene on chromosome 3q21.
Affected individuals exhibit elevated serum calcium, normal or high parathyroid hormone (PTH), and hypocalciuria.

Findings:

The p.Phe789del mutation in the CASR gene leads to reduced urinary calcium excretion.
This genetic alteration results in characteristic FHH biochemical profile.
Family studies and urinary calcium levels are crucial for suspecting FHH.

Implications:

Accurate differentiation between FHH and primary hyperparathyroidism is essential.
Genetic confirmation via CASR gene analysis is vital for correct diagnosis.
Avoiding unnecessary investigations and surgical interventions in FHH patients is a key outcome.