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

Partial deletion in the JK locus causing a Jk(null) phenotype.

Nicole Lucien1, Jacques Chiaroni, Jean-Pierre Cartron

  • 1INSERM-U76, Institut National de la Transfusion Sanguine, 6 rue Alexandre Cabanel, 75015-Paris, France.

Blood
|January 25, 2002
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

The RHCE*CeRN allele: molecular junction characterization and frequency distribution in Sub-Saharan African populations.

Blood transfusion = Trasfusione del sangue·2026
Same author

Predicting the toxicity-efficacy ratio of venetoclax in real-world patients.

Annals of hematology·2025
Same author

HLA Class Ib and MICA/MICB Expression in Human Tissues and Cell Types: Reshuffling Immune Players.

HLA·2025
Same author

Red blood cell alloimmunization immunogenetic risk factor.

Current opinion in immunology·2025
Same author

A Practical, Short, [<sup>18</sup>F]F-DOPA PET/CT Acquisition Method for Distinguishing Recurrent Brain Metastases from Radionecrosis Following Radiotherapy.

Journal of clinical medicine·2025
Same author

A Novel Method for a Precise Identification of Human Erythroblast Subpopulations by Flow Cytometry.

American journal of hematology·2025
Same journal

Fibrocytes drive JAK2V617F-mutated myelofibrosis: pitavastatin reverses marrow fibrosis and anemia.

Blood·2026
Same journal

Identifying steroid-refractory aGVHD before it happens.

Blood·2026
Same journal

ELISA-negative HIT: antibody recognition and relevance.

Blood·2026
Same journal

EBV and immunodeficiency: the odd couple drawn to the brain.

Blood·2026
Same journal

A bone to pick with ferric carboxymaltose.

Blood·2026
Same journal

A step toward streamlining HIT diagnosis.

Blood·2026
See all related articles

A novel mutation in the Kidd (JK) blood group gene was found in a Tunisian patient, causing a Jk(null) blood type and anti-Jk3 antibodies. This genetic alteration prevents the production of the Jk protein due to a deletion and altered splicing.

Area of Science:

  • Genetics
  • Immunology
  • Hematology

Background:

  • The Kidd (JK) blood group system is crucial for blood transfusion compatibility.
  • Jk(null) individuals lack functional JK gene products, leading to potential transfusion complications.

Observation:

  • A Tunisian patient with a Jk(null) phenotype presented with allo-anti-Jk3 antibodies.
  • Genetic analysis revealed a unique alteration in the JK blood group allele.

Findings:

  • Southern blot and exon mapping identified an internal deletion in the JK locus, specifically affecting exons 4 and 5.
  • Sequence analysis of the JK transcript demonstrated the absence of exons 4 and 5, replaced by a 136-bp sequence from intron 3.
  • This intron sequence contained cryptic splice sites, leading to aberrant splicing and a non-functional JK transcript.

Related Experiment Videos

Implications:

  • The identified mutation results in the absence of the translation initiation codon in exon 4, preventing Jk protein production.
  • This discovery expands the known spectrum of JK gene mutations and their association with Jk(null) phenotypes.
  • Understanding such genetic variations is vital for accurate blood typing and preventing alloimmunization in transfusion medicine.