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Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis
Author(s) -
Schwartz M.,
Christensen Ernst,
Christensen Niels C.,
Skovby Flemming,
Davies Kay E.,
Old John M.
Publication year - 1986
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1986.tb00520.x
Subject(s) - ornithine transcarbamylase deficiency , ornithine transcarbamylase , restriction fragment length polymorphism , proband , genetics , ornithine carbamoyltransferase , biology , gene , polymorphism (computer science) , microbiology and biotechnology , ornithine , genotype , mutation , urea cycle , amino acid , arginine
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.