Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Genetics of Speciation02:16

Genetics of Speciation

21.2K
Speciation is the evolutionary process resulting in the formation of new, distinct species—groups of reproductively isolated populations.
21.2K
What is Population Genetics?01:25

What is Population Genetics?

64.7K
A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
64.7K
What is Genetic Engineering?00:49

What is Genetic Engineering?

80.2K
Overview
80.2K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

9.2K
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...
9.2K
Types of Genetic Transfer Between Organisms02:18

Types of Genetic Transfer Between Organisms

30.7K
Genetic transfer occurs when genetic information is passed from one organism to another. It occurs via two mechanisms: vertical gene transfer and horizontal gene transfer. Vertical gene transfer occurs when genetic information is transferred from one generation to the next, which happens much more frequently than horizontal gene transfer. Both sexual and asexual reproduction are forms of vertical gene transfer, where one or more organisms pass some or all of their genome onto their progeny.
30.7K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

64.3K
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).
64.3K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Trabecular bone score (TBS) in Cushing's disease: TBS gain after hypercortisolism normalization.

Bone·2024
Same author

Response to Letter to the Editor From Jagannath and Mayilvaganan: "FCH-PET/CT in Primary Hyperparathyroidism With Discordant/Negative MIBI Scintigraphy and Ultrasonography".

The Journal of clinical endocrinology and metabolism·2023
Same author

FCH-PET/CT in Primary Hyperparathyroidism With Discordant/Negative MIBI Scintigraphy and Ultrasonography.

The Journal of clinical endocrinology and metabolism·2023
Same author

Osteogenesis Imperfecta: characterization of fractures during pregnancy and post-partum.

Orphanet journal of rare diseases·2022
Same author

18F-fluorocholine PET/CT and conventional imaging in primary hyperparathyroidism.

Diagnostic and interventional imaging·2022
Same author

Inadequate response to treatment reveals persistent osteoclast bone resorption in osteoporotic patients.

Bone·2021

Related Experiment Video

Updated: Feb 4, 2026

Forward Genetic Approaches in Chlamydia trachomatis
09:03

Forward Genetic Approaches in Chlamydia trachomatis

Published on: October 23, 2013

13.3K

Genetic hypercalcemia.

Catherine Cormier1

  • 1Hôpital Cochin assistance publique, hôpitaux de Paris, 27, rue du faubourg Saint-Jacques, 75014 Paris, France.

Joint Bone Spine
|October 10, 2018
PubMed
Summary

Genetic disorders can cause hypercalcemia, especially in young patients or those with a family history. Interpreting parathyroid hormone (PTH) levels and genetic testing are key to diagnosing these conditions.

Area of Science:

  • Endocrinology
  • Medical Genetics

Background:

  • Hypercalcemia can indicate an underlying genetic disorder, particularly in young individuals or those with a family history of the condition.
  • Tumors of endocrine glands (pancreas, thyroid, pituitary, adrenal) or jaw bone can be associated with genetic causes of hypercalcemia.
  • Serum parathyroid hormone (PTH) levels are crucial for interpreting hypercalcemia and classifying its genetic causes as parathyroid-related or unrelated.

Purpose of the Study:

  • To outline diagnostic approaches for identifying genetic causes of hypercalcemia.
  • To differentiate between various genetic hypercalcemia subtypes based on clinical and laboratory findings.
  • To highlight the role of genetic testing in confirming diagnoses and guiding patient management.

Main Methods:

  • Analysis of clinical presentation, family history, and serum calcium levels.
Keywords:
Familial hypercalcemiaGenetic hypercalcemiaHypercalcemia in young patientsSyndromic hypercalcemia

More Related Videos

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

37.9K
Preventing the Spread of Malaria and Dengue Fever Using Genetically Modified Mosquitoes
17:50

Preventing the Spread of Malaria and Dengue Fever Using Genetically Modified Mosquitoes

Published on: July 4, 2007

13.0K

Related Experiment Videos

Last Updated: Feb 4, 2026

Forward Genetic Approaches in Chlamydia trachomatis
09:03

Forward Genetic Approaches in Chlamydia trachomatis

Published on: October 23, 2013

13.3K
FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

37.9K
Preventing the Spread of Malaria and Dengue Fever Using Genetically Modified Mosquitoes
17:50

Preventing the Spread of Malaria and Dengue Fever Using Genetically Modified Mosquitoes

Published on: July 4, 2007

13.0K
  • Interpretation of serum parathyroid hormone (PTH) levels in conjunction with calcium levels.
  • Evaluation of specific genetic mutations, including calcium-sensing receptor, CYP4A1, ALPL, and NPT2A genes.
  • Consideration of syndromic manifestations and tumor history.

    • Main Results:

    • Elevated or inappropriately normal PTH levels suggest genetic causes, especially with a positive family history, syndromic features, or parathyroid tumors.
    • Normal PTH with moderate hypercalcemia and hypocalciuria points towards calcium-sensing receptor gene mutations.
    • Low PTH levels with elevated calcitriol suggest genetic defects causing non-parathyroid hypercalcemia or increased vitamin D sensitivity (CYP4A1 mutations).
    • Rare genetic causes include hypophosphatasia (ALPL mutations) and renal phosphate wasting (NPT2A mutations).

    Conclusions:

    • A systematic evaluation of clinical and laboratory data is essential for suspecting genetic hypercalcemia.
    • Genetic testing tailored to specific abnormalities confirms the diagnosis.
    • Advances in genetic testing are improving the understanding and management of genetic hypercalcemia phenotypes.