Abstract
OTC is a hepatic urea cycle enzyme encoded on the X-chromosome. Human OTC deficiency generally results in lethal neonatal ammonia intoxication in hemizygous affected males. Using an almost full length human OTC cDNA as probe, we have previously identified by Southern blotting two RFLPs following digestion with the endonuclease Msp I. 69% of control females were heterozygous for one or both polymorphisms. To increase the opportunity for prenatal diagnosis of females heterozygous for OTC deficiency, we now report two other RFLPs at the OTC locus. Genomic DNA from 27 control females was digested with Taq I. Three women (11%) were heterozygous for a new RFLP characterized by polymorphic bands at 3.6 and 3.7 kbp. Using the enzyme BamH I, screening of genomic DNA from 16 women revealed that eight (50%) were heterozygous for another RFLP characterized by polymorphic bands at 18 and 5.2 kbp. No RFLPs were detected when control DNA was digested with 4 other endonucleases. Because each of these RFLPs segregate independently, we estimate that ∼85% of OTC carriers can now be offered prenatal diagnosis.
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Fox, J., Rozen, R., Fenton, W. et al. 820 ADDITIONAL RESTRICTION FRAGMENT LENGTH POLYMORPHISMS (RFLS)FOR DETECTION OF ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY. Pediatr Res 19, 247 (1985). https://doi.org/10.1203/00006450-198504000-00850
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DOI: https://doi.org/10.1203/00006450-198504000-00850