title: Complement C6 and C7 DNA polymorphisms analysed by PCR in seven ethnic groups and characterisation of the C6 MspI RFLP.
abstract: Five polymorphisms in the C6 and C7 genes have been investigated in seven ethnic groups. The allele frequencies are broadly similar in most groups except C7 M/N which is monomorphic in our group of Africans, and C6 MspI and C7 S367T where the allele frequencies in African and Cape Coloured subjects are very different from the other ethnic groups. There is very little allelic association except between C6 A/B and C6 MspI. Seventeen of the 32 possible haplotypes have been observed, suggesting that much recombination has taken place. We describe a new method for the investigation of the MspI RFLP located in intron 3 of C6 (approximately 3 kbp 3' from exon 3 and 1.5 kbp 5' from exon 4) and its molecular basis, together with an improved method for the isolation of DNA from stored serum.
authors.affiliation: Molecular Immunopathology Unit, University of Cambridge, Addenbrookes NHS Trust, UK.
authors.forename: B A
authors.initials: BA
authors.lastname: Fernie
authors.forename: A
authors.initials: A
authors.lastname: Finlay
authors.forename: D
authors.initials: D
authors.lastname: Price
authors.forename: E
authors.initials: E
authors.lastname: Chan
authors.forename: A
authors.initials: A
authors.lastname: Orren
authors.forename: V C
authors.initials: VC
authors.lastname: Joysey
authors.forename: K A
authors.initials: KA
authors.lastname: Joysey
authors.forename: M J
authors.initials: MJ
authors.lastname: Hobart
mesh_terms: D000483:Alleles; D002681:China / Q000208:ethnology; D003183:Complement C6 / Q000235:genetics*; D003184:Complement C7 / Q000235:genetics*; D004247:DNA / Q000302:isolation & purification*; D019003:Deoxyribonuclease HpaII / Q000235:genetics*; D005060:Europe / Q000208:ethnology; D005787:Gene Frequency / Q000276:immunology; D006239:Haplotypes / Q000276:immunology; D006801:Humans; D007194:India / Q000208:ethnology; D008296:Malaysia / Q000208:ethnology; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D013019:South Africa / Q000208:ethnology; D013030:Spain / Q000208:ethnology
chemical_list: D003183:Complement C6; D003184:Complement C7; D004247:DNA; D019003:Deoxyribonuclease HpaII