A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism.

A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism.

Giordano S J; Kaftory A; Steggles A W

Human genetics

1994

1994-05

We have analyzed reticulocyte and leukocyte mRNAs isolated from a patient with congenital methemoglobinemia and pseudohermaphrodism. The cytochrome b5 cDNA sequences were amplified using specific oligonucleotide primers and the polymerase chain reaction (PCR). DNA sequencing indicated that there was a 16-bp deletion in the cDNA leading to a new, in-frame stop signal and resulting in a truncated protein of 45 amino acids. Genomic DNA was analyzed, and the molecular lesion was shown to be an AG–\textgreaterGG alteration in the 3' splicing junction of intron 1. The splice site alteration leads to the usage of the nearest AG as an alternative splice site, resulting in a 16-bp deletion in the mRNA. All of the studies on reticulocyte mRNA and genomic DNA indicated that the patient was homozygous for the lesion.

*DNA; *Mutation; Base Sequence; Cytochromes b5/*genetics; Disorders of Sex Development/*enzymology/genetics; DNA Primers/chemistry; Gene Deletion; Humans; Leukocytes/metabolism; Male; Messenger/metabolism; Methemoglobinemia/*congenital/*enzymology; Molecular Sequence Data; Polymerase Chain Reaction; Recombinant; Reticulocytes/metabolism; RNA

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568–570

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