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

Fungal Group Zygomycota01:29

Fungal Group Zygomycota

Zygomycota, previously classified as a distinct fungal group, are primarily terrestrial, saprophytic molds that play a crucial role as decomposers. Recent phylogenetic studies have revealed that these fungi are now divided into two major clades — Mucoromycota, which includes many symbiotic species, and Zoopagomycota, which primarily consists of parasitic and pathogenic fungi. These groups exhibit distinct ecological roles and reproductive strategies while sharing key structural and...
Zygotic Development And Stem Cell Formation01:10

Zygotic Development And Stem Cell Formation

The development of all multicellular organisms starts with the fusion of haploid cells called sperm and egg to form a diploid zygote. A zygote is a totipotent cell that can develop into a complete organism. The zygote undergoes cell division or cleavage to form an 8-cell mass. Until this stage, the cells are spherical, loosely attached, and remain totipotent. Totipotent cells are capable of developing both the embryonic and the extraembryonic tissues. However, as they continue to divide, they...
Oligosaccharide Assembly01:24

Oligosaccharide Assembly

Protein glycosylation starts in the ER lumen and continues in the Golgi apparatus. Glycosyltransferases catalyze the addition of sugar molecules or glycosylation of proteins. Usually, these enzymes add sugars to the hydroxyl groups of selected serine or threonine residues to form O-linked glycans or the amino groups of asparagine residues to form N-linked glycans. Different positions on the same polypeptide chain can contain differently linked glycans.
Multiple sugar molecules that may or may...
Polytene Chromosomes02:04

Polytene Chromosomes

Polytene chromosomes are giant interphase chromosomes with several DNA strands placed side by side. They were discovered in the year 1881 by Balbiani in salivary glands, intestine, muscles, malpighian tubules, and hypoderm of larvae Chironomus plumosus. Hence, these are also called "Salivary gland chromosomes." These are found in insects of the order Diptera and Collembola; in certain organs of mammals; and synergids, antipodes of flowering plants. Polytene chromosomes are also regularly...
Polytene Chromosomes02:04

Polytene Chromosomes

Polytene chromosomes are giant interphase chromosomes with several DNA strands placed side by side. They were discovered in the year 1881 by Balbiani in salivary glands, intestine, muscles, malpighian tubules, and hypoderm of larvae Chironomus plumosus. Hence, these are also called "Salivary gland chromosomes." These are found in insects of the order Diptera and Collembola; in certain organs of mammals; and synergids, antipodes of flowering plants. Polytene chromosomes are also regularly...
Homologous Recombination02:31

Homologous Recombination

The basic reaction of homologous recombination (HR) involves two chromatids that contain DNA sequences sharing a significant stretch of identity. One of these sequences uses a strand from another as a template to synthesize DNA in an enzyme-catalyzed reaction. The final product is a novel amalgamation of the two substrates. To ensure an accurate recombination of sequences, HR is restricted to the S and G2 phases of the cell cycle. At these stages, the DNA has been replicated already and the...

You might also read

Related Articles

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

Sort by
Same author

Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.

Genetics in medicine : official journal of the American College of Medical Genetics·2023
Same author

Clinical and molecular features of four families with CLDN10-related HELIX syndrome.

European journal of medical genetics·2023
Same author

Primate-specific ZNF808 is essential for pancreatic development in humans.

Nature genetics·2023
Same author

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.

The Journal of clinical investigation·2023
Same author

Clinical utility of polygenic scores for cardiometabolic disease in Arabs.

Nature communications·2023
Same author

Influence of autozygosity on common disease risk across the phenotypic spectrum.

Cell·2023
Same journal

Bridging the Functional Gap by Synergy of Exome/Genome and RNA Sequencing: A Systematic Semi-quantitative Review Demonstrating Enhanced Diagnostic Yield in Genetic Diagnostics.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same journal

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same journal

Surveillance adherence and clinical findings in children with confirmed or familial TP53 variants: the Swedish multicenter constitutional TP53 study (SWEP53).

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same journal

Extended newborn screening using DNA methylation testing for fragile X syndrome in 17,107 infants.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same journal

Response to Himanshu Goel.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same journal

Evaluation of Electrical Impedance Myography as a Noninvasive Musculoskeletal Biomarker in Infantile- and Late-Onset Pompe Disease.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
See all related articles

Related Experiment Video

Updated: Jun 5, 2026

Visualizing Zygotic Genome Activation In Single Cells of Early Embryos
07:30

Visualizing Zygotic Genome Activation In Single Cells of Early Embryos

Published on: April 3, 2026

Autozygome decoded.

Fowzan S Alkuraya1

  • 1Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia. falkuraya@kfshrc.edu.sa

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|December 30, 2010
PubMed
Summary
This summary is machine-generated.

Consanguineous unions create autozygosity, a pattern of homozygosity useful for gene mapping. Advances in SNP microarrays and whole genome sequencing are expanding its clinical and functional genomic applications.

More Related Videos

Flow Cytometry-based Purification of S. cerevisiae Zygotes
15:09

Flow Cytometry-based Purification of S. cerevisiae Zygotes

Published on: September 21, 2012

Dissection of Saccharomyces Cerevisiae Asci
12:57

Dissection of Saccharomyces Cerevisiae Asci

Published on: May 19, 2009

Related Experiment Videos

Last Updated: Jun 5, 2026

Visualizing Zygotic Genome Activation In Single Cells of Early Embryos
07:30

Visualizing Zygotic Genome Activation In Single Cells of Early Embryos

Published on: April 3, 2026

Flow Cytometry-based Purification of S. cerevisiae Zygotes
15:09

Flow Cytometry-based Purification of S. cerevisiae Zygotes

Published on: September 21, 2012

Dissection of Saccharomyces Cerevisiae Asci
12:57

Dissection of Saccharomyces Cerevisiae Asci

Published on: May 19, 2009

Area of Science:

  • Human Genetics
  • Genomics
  • Molecular Biology

Background:

  • Consanguineous unions result in autozygosity, a specific type of homozygosity where ancestral chromosomal segments reunite.
  • Autozygosity has historically served as a valuable gene mapping tool for identifying recessive mutations.
  • Single nucleotide polymorphism (SNP) microarrays have largely superseded older methods like microsatellites for autozygosity analysis.

Purpose of the Study:

  • To review the applications of autozygosity beyond traditional gene mapping.
  • To explore emerging clinical and functional genomic uses of autozygosity.
  • To highlight the potential of whole genome sequencing in leveraging autozygosity.

Main Methods:

  • Review of existing literature on autozygosity and its applications.
  • Discussion of technological advancements, including SNP microarrays and whole genome sequencing.
  • Exploration of genetic principles underlying autozygosity.

Main Results:

  • Autozygosity offers a unique genomic pattern with diverse applications.
  • SNP microarrays provide a high-throughput method for analyzing autozygosity.
  • Whole genome sequencing is poised to reveal further insights into the autozygome.

Conclusions:

  • Autozygosity presents significant opportunities in clinical and functional genomics.
  • Technological progress is enhancing the utility of autozygosity studies.
  • The "autozygome" holds substantial untapped potential for genetic research.