Related Experiment Video
Updated: Dec 10, 2025
A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
A Novel c.796 A>C Mutation in the ABO*B.01 Allele Responsible for CisAB Phenotype
Xiaofei Li1,2, Huiwen Bi3, Liping Sun1
1Department of Blood Transfusion, Chinese PLA General Hospital, Beijing, China.
Insights
A rare CisAB blood group phenotype was identified in a Chinese family. Genetic analysis revealed a novel CisAB allele (c.796A>C) in the ABO gene, marking the first discovery of this type in China.
Area of Science:
- Genetics
- Immunology
- Blood Group Serology
Background:
- The CisAB phenotype is a rare blood group characterized by the co-expression of A and B antigens.
- Individuals with this phenotype are infrequently observed in Asian populations, particularly in China.
Purpose of the Study:
- To investigate the genetic basis of a suspected CisAB phenotype in a Chinese newborn and their family.
- To identify the specific genetic mutation responsible for the CisAB phenotype in this cohort.
Main Methods:
- Conventional serological tests were employed to determine the ABO blood group phenotype.
- Polymerase chain reaction (PCR) amplification and sequencing of the ABO gene's coding regions (exons 1-7).
- Allele-specific primer sequencing was utilized for ABO haplotype determination.
Main Results:
- Serological tests and family investigations confirmed the CisAB phenotype in the proband, his father, and grandfather.
- A novel CisAB allele, characterized by a single nucleotide change (c.796A>C) compared to the ABO*B.01 allele, was identified in affected family members.
Conclusions:
- The study identified a novel CisAB allele, designated as c.796A>C in ABO*B.01.
- This represents the first documented instance of this specific CisAB allele within the Chinese population.
Background:
Individuals with the CisAB phenotype are rare in the Chinese population. In the present study, we investigated the sequence of the ABO gene and family members of a newborn suspected to have the CisAB phenotype.
Methods:
The ABO phenotype was detected using conventional serological tests. The full coding region of exons 1 to 7 of the ABO gene was amplified by polymerase chain reaction and was sequenced. The ABO haplotype was determined by the allele-specific primer sequencing method.
Results:
The proband and his father and grandfather were assigned the CisAB phenotype according to the results of the serological tests and family investigation. A novel CisAB allele was identified in the proband and his father and grandfather, which has only one nucleotide difference at position 796 from A to C (c.796A>C) compared with the ABO*B.01 allele.
Conclusion:
A novel CisAB (c.796A>C mutation in ABO*B.01) allele is the first identified in the Chinese population.
More Related Videos
07:26High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
Published on: July 18, 2017
05:48Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
Published on: March 16, 2022
Related Concept Videos
01:12The ABO Blood Group
Antigens in the ABO Blood Group System
Antigens are substances that can trigger an immune response, leading to the production of antibodies. In the ABO blood group system,...
02:20Blood Types
ABO blood group
ABO antigens are glycoproteins encoded by genes present on...
01:49Multiple Allele Traits
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...
02:45Blood Transfusion and Agglutination
History
The history of blood transfusion dates back to the 17th century, when early attempts were made in animals. In 1818 James Blundell, a British doctor, performed the first successful human blood transfusion. Later in 1900, Karl...
01:11Genetic Lingo