A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism.
*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
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.
Giordano S J; Kaftory A; Steggles A W
Human genetics
1994
1994-05
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1007/bf00202825" target="_blank" rel="noreferrer noopener">10.1007/bf00202825</a>
A Splicing Mutation In The Cytochrome B(5) Gene From A Patient With Congenital Methemoglobinemia And Pseudohermaphrodism
deficiency; enzyme; Genetics & Heredity; hereditary methemoglobinemia; human-liver; microsomes; rna
Giordano S J; Kaftory A; Steggles A W
Human Genetics
1994
1994-05
Journal Article or Conference Abstract Publication
n/a
The human cytochrome b5 gene and two of its pseudogenes are located on chromosomes 18q23, 14q31-32.1 and 20p11.2, respectively.
*Chromosomes; Animals; Blotting; Cell Line; Chromosome Mapping; Cricetinae; Cytochromes b5/*genetics; DNA/analysis; Genetic/genetics; Human; Humans; Hybrid Cells; In Situ Hybridization; Molecular Sequence Data; Pair 14; Pair 18; Pair 20; Polymerase Chain Reaction; Pseudogenes/*genetics; Southern; Translocation
Using very high stringency hybridization conditions for the Southern blot hybridization analysis of hamster-human cell hybrid DNA, we were able to map the human cytochrome b5 gene and two of its pseudogenes (psgb(5)1 and psgb(5)2) unambiguously to chromosomes 18, 14, and 20. These localizations were confirmed and extended to 18q23, 14q31-32.1, and 20p11.2 by using a combination of nonisotopic in situ hybridization of chromosomal spreads and the polymerase chain reaction analysis of DNA samples isolated from somatic cell hybrids retaining deletions or translocations of chromosome 18.
Giordano S J; Yoo M; Ward D C; Bhatt M; Overhauser J; Steggles A W
Human genetics
1993
1993-12
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1007/bf00420948" target="_blank" rel="noreferrer noopener">10.1007/bf00420948</a>