Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis.
By examining a restriction fragment length polymorphism (RFLP) detected by a gene specific DNA probe of ornithine transcarbamylase (OTC), we have been able to follow the segregation of the defective gene in a family with OTC deficiency. We have identified three sisters of the proband as carriers, and excluded a fourth as a carrier.
D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D010375:Pedigree; D011110:Polymorphism, Genetic
D004247:DNA; D009954:Ornithine Carbamoyltransferase; D004262:DNA Restriction Enzymes