Can I read Novel 3′Rhesus box sequences confound RHD zygosity assignment on EtoBox?

Novel 3′Rhesus box sequences confound RHD zygosity assignment by Kimberly A. Matheson; Gregory A. Denomme is a Medicine article available to read on EtoBox.

What is Novel 3′Rhesus box sequences confound RHD zygosity assignment about?

**BACKGROUND**: Paternal __RHD__ zygosity is required for genetic counseling and management of HDN caused by anti‐D. The most common D− haplotype is due to the deletion of __RHD,__ which results in the formation of a hybrid __Rhesus box,__ theoretically through the recombination of 5′ and 3′__Rhesus boxes.__ **STUDY DESIGN AND METHODS**: The validity of __Rhesus box Pst__I analysis was assessed to determine __RHD__ zygosity by correlating D phenotype, most probable genotype, and __Rhesus box__ PCR‐RFLP. __RHD__ exons were examined, and a 501‐bp __Rhesus box__ fragment was sequenced that flanked the polymorphic __Pst__I site. **RESULTS**: __Rhesus box__ analysis and the most probable genotype differed for 60 of 200 of the samples (30%). The incorrect zygosity assignment by the most probable genotype method is the likely reason for the difference. However, 8 of 328 samples showed __Rhesus box__ copy numbers that were inconsistent with the D phenotype. Two D− samples with one hybrid __Rhesus box__ had a nonfunctional __RHD.__ Six D+ samples appeared to have two copies of the hybrid __Rhesus box__ due to novel 3′__Rhesus boxes__ that contained nucleotide polymorphisms previously assign

Who reads Novel 3′Rhesus box sequences confound RHD zygosity assignment?

Author

Kimberly A. Matheson; Gregory A. Denomme

Publisher

Elsevier Science; John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Elsevier; Elsevier BV; Wiley (ISSN 0372-1248)

Published

2002

Language

EN

Field

Medicine (Health Sciences)