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

Novel 3'Rhesus box sequences confound RHD zygosity assignment.

Kimberly A Matheson1, Gregory A Denomme

  • 1Canadian Blood Services, Research and Development; Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada.

Transfusion
|June 27, 2002
PubMed
Summary

Rhesus box analysis for RHD zygosity is often inaccurate, especially in Black individuals, due to nonfunctional RHD and novel sequences. This impacts genetic counseling for hemolytic disease of the newborn (HDN).

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

A serologic weak D expressed by a combined weak D type 1/41.0.1 allele.

Transfusion·2026
Same author

International Society of Blood Transfusion Working Party on Red Cell Immunogenetics and Blood Group Terminology Report of Gothenburg, Barcelona and four virtual business meetings: Update on blood group systems.

Vox sanguinis·2025
Same author

Kell and Kx blood group systems: an update.

Immunohematology·2025
Same author

JK*01(307C) encodes a JK null allele.

Transfusion·2025
Same author

Cell-Free DNA Analysis for the Determination of Fetal Red Blood Cell Antigen Genotype in Individuals With Alloimmunized Pregnancies.

Obstetrics and gynecology·2024
Same author

Defining the breakpoints of hybrid blood group alleles.

Blood transfusion = Trasfusione del sangue·2024

Area of Science:

  • Genetics
  • Immunology
  • Molecular Biology

Background:

  • Paternal RHD zygosity is crucial for managing hemolytic disease of the newborn (HDN) caused by anti-D.
  • The common D-haplotype involves RHD deletion and a hybrid Rhesus box, formed by 5' and 3' Rhesus box recombination.

Purpose of the Study:

  • To evaluate the accuracy of Rhesus box PstI analysis for determining RHD zygosity.
  • To compare Rhesus box PCR-RFLP results with D phenotype and most probable genotype.

Main Methods:

  • Assessed Rhesus box PstI analysis validity by correlating D phenotype, most probable genotype, and Rhesus box PCR-RFLP.
  • Examined RHD exons and sequenced a 501-bp Rhesus box fragment flanking the PstI site.

Main Results:

Related Experiment Videos

  • Rhesus box analysis and most probable genotype differed in 30% of samples (60/200), suggesting zygosity assignment errors.
  • 8/328 samples showed inconsistent Rhesus box copy numbers with D phenotype, including nonfunctional RHD in D- individuals and novel 3' Rhesus boxes in D+ individuals.
  • All eight discrepant samples were from individuals of Black descent, identified by the GATA-1 silencing mutation.

Conclusions:

  • Rhesus box PCR-RFLP analysis for RHD zygosity is confounded by nonfunctional RHD+ (2.3% of D-) and rare novel 3' Rhesus box sequences (0.9% of alleles).
  • These findings highlight limitations in current RHD zygosity testing, particularly in specific populations, impacting HDN management.