Sex influences transmission of the supratype associated with the C2 deficiency allele: a possible mechanism for the maintenance of heterozygosity and disease susceptibility.
We have examined the transmission of the supratype associated with C2 deficiency (C2Q0) using our own and many published pedigrees in order to determine whether nonrandom transmission may contribute to the stability of disease-associated supratypes. Unexpectedly, we found that C2Q0 may be preferentially transmitted to the opposite sex and therefore propose that such "zig-zag" transmission may result in the preservation of recessive disease susceptibility genes and in the maintenance of heterozygosity. Further pedigrees are required to verify our findings.
D000483:Alleles; D003175:Complement C2 / Q000172:deficiency* / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D012723:Sex
D003175:Complement C2