Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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DNA / genetics
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DNA Restriction Enzymes
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Female
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Genetic Carrier Screening*
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Humans
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Infant, Newborn
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Male
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Ornithine Carbamoyltransferase / genetics*
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Ornithine Carbamoyltransferase Deficiency Disease
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Pedigree
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Polymorphism, Genetic
Substances
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DNA
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Ornithine Carbamoyltransferase
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DNA Restriction Enzymes