Inheritance of ornithine aminotansferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina

Y. Hotta, N. G. Kennaway, R. G. Weleber, George Inana

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

We studied the human ornithine aminotransferase (OAT) gene, mRNA, and enzyme activity in fibroblasts from a family with gyrate atrophy (G.A.) of the choroid and retina, using a normal human OAT cDNA as a probe. The family consists of an affected patient, who is heterozygous for a partial deletion of the functional OAT gene and whose cells produce no mRNA, and of his father, mother, two sons, and a daughter. Southern blot analysis of the OAT gene showed the partial deletion in the patient and in his father and daughter and in one son. Northern blot analysis revealed no OAT mRNA in the patient and approximately 50% of the normal level of OAT mRNA in the father, mother, two sons, and daughter. Assay showed that the OAT activity in these individuals mirrored the OAT mRNA levels. The results indicate that an active allele of the OAT gene expresses 50% of the total normal OAT mRNA and activity and that both alleles of the gene are inactive in the patient in this pedigree, a situation resulting in a complete absence of the OAT mRNA, in accordance with the autosomal recessive mechanism of this disease; they also indicate a 50% decrease of OAT mRNA and enzyme activity in obligate heterozygous carriers carrying one defective allele and that these defects are stably inherited.

Original languageEnglish
Pages (from-to)353-357
Number of pages5
JournalAmerican Journal of Human Genetics
Volume44
Issue number3
StatePublished - Jan 1 1989
Externally publishedYes

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Gyrate Atrophy
Ornithine-Oxo-Acid Transaminase
Ornithine
Messenger RNA
Enzymes
Nuclear Family
Genes
Fathers
Alleles
Mothers
Pedigree
Southern Blotting

ASJC Scopus subject areas

  • Genetics

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Inheritance of ornithine aminotansferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina. / Hotta, Y.; Kennaway, N. G.; Weleber, R. G.; Inana, George.

In: American Journal of Human Genetics, Vol. 44, No. 3, 01.01.1989, p. 353-357.

Research output: Contribution to journalArticle

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