6533b7d8fe1ef96bd126b82b
RESEARCH PRODUCT
The eighth component of human complement: molecular basis of C8A (C81) polymorphism.
Christian RittnerJames M. SodetzThomas KaufmannLin ZhangPeter M. Schneidersubject
ChinaGenotypeSequence analysisPopulationMolecular Sequence DataBiologyPolymerase Chain Reactionlaw.inventionlawComplementary DNAGenotypeGeneticsHumansPoint MutationeducationGeneGenetics (clinical)Polymerase chain reactionAllelesDNA PrimersGeneticseducation.field_of_studyPolymorphism GeneticBase SequencePoint mutationExonsMolecular biologyComplement C8Genetic markerdescription
Using an exon-specific polymerase chain reaction (PCR) followed by direct DNA sequence analysis we have analyzed the polymorphism of the alpha-chain of the eighth component of human complement (C8) at the DNA level. We found that two common alleles, C8A*A and C8A*B, are characterized by the substitution of a single amino acid (Gln to Lys), which is caused by a point mutation of a single nucleotide (C to A) in exon 3 at position 187 of the mature C8 alpha cDNA sequence. Based on this mutation, an allele-specific PCR was designed detecting the two alleles of C8A. We applied this method to type the C8A polymorphism using DNA samples from a Chinese Han population. The comparison with the data of protein typing of the same samples proved that the described method is efficient and reliable for the identification of C8A genotypes and may be valuable for further application in population studies and forensic science.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1995-09-01 | Human genetics |