Related Experiment Video
Updated: Oct 5, 2026
Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction
Published on: May 12, 2016
A D(V)-like phenotype is obliterated by A226P in the partial D DBS
F F Wagner1, M Ernst, H H Sonneborn
1Department of Transfusion Medicine, the Ulm University Clinic, Germay.
Background:
In D category V types, the RHD exon 5 or parts thereof are replaced by the corresponding RHCE DNA segments. In D category V types I and II, the amino acid at position 226 is alanine, which is typical of the prevalent RHD allele and is observed in all RHCE alleles encoding the antigen e. A proline at position 226 in RHCE encodes the antigen E.
Study Design And Methods:
A blood sample of ccDEe phenotype was referred as suspected D category VI. The RHD nucleotide sequence and the D epitope pattern were determined.
Results:
A new partial D, DBS, encoded by an RHD-RHcE(5)-RHD hybrid allele, was found. Although it differed from D(Va) type II by an A226P substitution only, it lacked epitopes epD4, epD12, epD17, epD18, and epD22 that were present in D(Va). The 5' breakpoint region was located between the deletion in RHD intron 4 and the first polymorphic nucleotide of DBS exon 5.
Conclusion:
The phenotypes of RHD alleles with gene conversions limited to exon 5 depended critically on the amino acid at position 226. If alanine was present at this position, gene conversions involving E233Q led to a D(Va)-like phenotype. If proline was present, many additional epitopes were lost, and the phenotype became reminiscent of DFR. The 5' breakpoint region is shared by 10 alleles and may represent the most active "hot spot" for gene conversions known in RH.
Related Concept Videos
01:43Incomplete Dominance
02:32Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon has three reading...
01:09Epistasis Analysis
02:50Dosage Compensation
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with distinct numbers of X chromosomes will have...
02:41Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
01:50Test Cross