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 Experiment Videos

Consanguinity sans reproche.

L P Ten Kate1, H Scheffer, M C Cornel

  • 1Department of Medical Genetics, University of Groningen, The Netherlands.

Human Genetics
|January 1, 1991
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.

Journal of the European Academy of Dermatology and Venereology : JEADV·2024
Same author

[Detection and treatment of familial hypercholesterolaemia; the earlier, the better?]

Nederlands tijdschrift voor geneeskunde·2020
Same author

Recent developments in genetics and medically-assisted reproduction: from research to clinical applications<sup>†‡</sup>.

Human reproduction open·2019
Same author

Recent developments in genetics and medically assisted reproduction: from research to clinical applications.

European journal of human genetics : EJHG·2017
Same author

Risk factors for thiopurine-induced myelosuppression and infections in inflammatory bowel disease patients with a normal TPMT genotype.

Alimentary pharmacology & therapeutics·2017
Same author

The glutathione transferase Mu null genotype leads to lower 6-MMPR levels in patients treated with azathioprine but not with mercaptopurine.

The pharmacogenomics journal·2017
Same journal

A novel pathogenic synonymous DHCR7 variant unveiled by aberrant splicing in Smith-Lemli-Opitz syndrome.

Human genetics·2026
Same journal

Blending borders: reconstructing the genetic history of the Sindhi population.

Human genetics·2026
Same journal

Within-sibling attenuation of polygenic risk score accuracy: investigating the effects of principal component analysis, LD score regression, and mixed model association in the UK Biobank.

Human genetics·2026
Same journal

Long-read genome sequencing resolves a de novo complex 18q12.1q21.2 triplication causing partial tetrasomy and reveals its underlying mechanism.

Human genetics·2026
Same journal

A genetic variant of adenylate cyclase 7 associated with ulcerative colitis shows impaired function and G-protein-coupled receptor signaling.

Human genetics·2026
Same journal

AI in variant analysis: fast track to genetic diagnoses.

Human genetics·2026
See all related articles

In a family with two cystic fibrosis patients, DNA analysis revealed distinct mutations, ruling out homozygosity by descent. A new formula helps determine the link between parental consanguinity and autosomal recessive diseases in children.

Area of Science:

  • Medical Genetics
  • Molecular Biology
  • Pediatrics

Background:

  • Cystic Fibrosis (CF) is an autosomal recessive genetic disorder.
  • Consanguinity in parents increases the risk of autosomal recessive diseases in offspring.
  • Previous studies have explored genetic causes of CF, but specific familial mutation analysis in consanguineous families requires further investigation.

Purpose of the Study:

  • To investigate the genetic basis of cystic fibrosis in a family with consanguineous parents and two affected children.
  • To differentiate between homozygosity by descent and compound heterozygosity for CF mutations.
  • To develop a probabilistic formula for assessing the role of consanguinity in autosomal recessive diseases.

Main Methods:

  • DNA analysis was performed on affected children and parents.

Related Experiment Videos

  • Genetic sequencing to identify specific mutations in the CFTR gene.
  • Application of a novel formula to calculate the probability of consanguinity's role.

    • Main Results:

    • DNA analysis identified two different CFTR mutations in the affected children, indicating compound heterozygosity.
    • The findings excluded homozygosity by descent as the cause of CF in this family.
    • A formula was derived to quantify the probability of parental consanguinity's causal relationship with the disease.

    Conclusions:

    • Compound heterozygosity for CFTR mutations can occur in offspring of consanguineous parents.
    • Parental consanguinity does not always lead to homozygosity by descent for recessive diseases.
    • The developed formula provides a tool for genetic counseling in families with consanguinity and genetic disorders.