Restriction fragment length polymorphism of the human c-fms gene.
By using blot hybridization with a v-fms probe, a polymorphism for EcoRI, HindIII, and BamHI restriction endonuclease sites associated with the human c-fms locus was observed in a random adult population. This restriction fragment length polymorphism can be explained on the basis of the existence of two alleles, a and b, and is due to a short (congruent to 500 base pairs) deletion characteristic of allele a. The distribution in the analyzed population (48 unrelated individuals) is 23% heterozygotes ab, 75% homozygotes bb, and 2% homozygotes aa. Though the inheritance of this polymorphism follows a Mendelian pattern, the children from couples ab X bb are of the following genotype: 74% ab and 26% bb. These deviations from the expected frequencies of 50% suggest a selective pressure in favor of heterozygotes.
Xu
D Q
DQ
Guilhot
S
S
Galibert
F
F
D000483:Alleles; D004262:DNA Restriction Enzymes; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D009857:Oncogenes; D010375:Pedigree; D011110:Polymorphism, Genetic; D012641:Selection, Genetic
D004262:DNA Restriction Enzymes