Related Experiment Videos
The eighth component of human complement: molecular basis of C8A (C81) polymorphism
L Zhang1, C Rittner, J M Sodetz
1Institute of Legal Medicine, Johannes Gutenberg University, Mainz, Germany.
Human Genetics
|September 1, 1995
Summary
Researchers identified two common alleles of the human complement component 8 alpha-chain (C8A) using DNA sequencing. A single nucleotide mutation causes a C8A polymorphism, enabling reliable genotyping for population and forensic studies.
Area of Science:
- Immunogenetics
- Molecular Biology
- Human Genetics
Background:
- The eighth component of human complement (C8) is crucial for the complement system's function.
- Polymorphisms in complement genes can influence immune responses and disease susceptibility.
- Understanding C8 alpha-chain genetic variations is important for population and forensic genetics.
Purpose of the Study:
- To analyze the polymorphism of the alpha-chain of the eighth component of human complement (C8A) at the DNA level.
- To develop a reliable method for genotyping C8A alleles.
- To investigate the C8A allele frequencies in a Chinese Han population.
Main Methods:
- Exon-specific polymerase chain reaction (PCR) was employed for targeted amplification.
- Direct DNA sequence analysis was used to identify nucleotide variations.
- An allele-specific PCR assay was designed based on a identified point mutation.
Main Results:
- Two common C8A alleles, C8A*A and C8A*B, were identified, differing by a single amino acid substitution (Gln to Lys).
- This variation results from a C-to-A point mutation in exon 3 of the C8 alpha cDNA.
- The developed allele-specific PCR method accurately typed C8A genotypes in a Chinese Han population.
Conclusions:
- A novel, efficient, and reliable DNA-based method for C8A genotyping has been established.
- The findings provide valuable data on C8A allele frequencies in the Chinese Han population.
- This genotyping method holds potential for applications in population genetics and forensic science.