Related Experiment Video
Updated: Apr 20, 2026
06:41
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
14.5K
[Molecular genetic analysis of a weak D phenotype]
Fengqiu Lin1, Xu Zhang, Jianping Li
1Liaoning Blood Center, Shenyang, Liaoning 110044, P. R. China. ljp_63@163.com.
Summary
A rare weak D phenotype was identified in an individual. DNA sequencing revealed a 365C>T mutation in the RHD gene, confirming weak D type 54 and low D antigen expression.
Area of Science:
- * Molecular genetics and blood group serology.
- * Investigation of human blood group antigen expression.
Background:
- * The RhD blood group system is crucial for transfusion compatibility.
- * Weak D phenotypes can lead to transfusion complications if not accurately identified.
Observation:
- * Serological testing revealed a weak D RhD blood group phenotype in the proband.
- * Genetic analysis of the RHD gene was performed using PCR and sequencing.
Findings:
- * The RHD gene and Rhesus box were successfully amplified, indicating an RHD+/RHD- genotype.
- * A specific mutation, 365C>T in exon 3 of the RHD gene, was identified.
- * This mutation was confirmed as the cause of the weak D type 54 phenotype and reduced D antigen expression.
Implications:
- * Accurate molecular diagnosis of weak D phenotypes is essential for safe blood transfusions.
- * Understanding the genetic basis of weak D types aids in predicting antigen expression levels.
- * This study contributes to the characterization of rare RhD variants.
Related Concept Videos
01:43Incomplete Dominance
32.9K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
32.9K
01:35Pedigree Analysis
91.6K
Overview
91.6K
01:11Genetic Lingo
119.2K
Overview
119.2K
02:41Lethal Alleles
20.0K
Agouti: A Lethal Allele
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...
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...
20.0K
01:09Epistasis Analysis
6.3K
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
6.3K