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Related Concept Videos

Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
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New RHCE variant alleles encoding the D- - phenotype.

Gorka Ochoa-Garay1, Joann M Moulds, Jacqueline Cote

  • 1R&D Department, Progenika Inc., Medford, Massachusetts.

Transfusion
|September 12, 2013
PubMed
Summary
This summary is machine-generated.

Rare RhCE-null alleles present transfusion challenges. Molecular analysis identified three new RHCE-null variants, improving transfusion safety for patients and donors with rare blood types.

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Area of Science:

  • Hematology
  • Genetics
  • Immunology

Background:

  • Rare variant alleles lacking RhCE antigens pose transfusion difficulties for alloimmunized patients.
  • These rare alleles also signify valuable blood units from donors, highlighting the need for precise identification.

Observation:

  • Five individuals with the D+ C- c- E- e- (D--) phenotype and their relatives were analyzed using serologic and molecular methods.
  • Genomic DNA underwent microarray genotyping, sequencing, exon scanning, and copy number determination to pinpoint causative RHCE alleles.

Findings:

  • Molecular techniques confirmed the D-- phenotype in all five cases.
  • Three previously unreported RHCE-null alleles were identified: RHCE*Ce-D(3-9)-Ce, RHCE*Ce87_93insT, and RHCE*cE221A.

Implications:

  • Molecular characterization of D-- phenotypes enables the discovery of novel RHCE-null variants.
  • Identifying known RHCE-null variants aids in confirming D-- phenotypes, thereby enhancing transfusion safety.