Linked Life Data

9177409

Source:http://linkedlifedata.com/resource/pubmed/id/9177409

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1997-7-3
pubmed:abstractText
17alpha-Hydroxylase deficiency (17OHD) is an autosomal recessive disorder that produces an excess of mineralocorticoids and sexual differentiation abnormalities. Using DNA sequencing analysis of the 17alpha-hydroxylase (CYP17) gene from a Japanese patient with 17OHD, we identified a new type of genetic abnormality in this disease, a G to A transition at position +5 in the splice donor site of intron 7 of the CYP17 gene. In vitro expression analysis of an allelic minigene that consists of exons 6-8 of the patient's CYP17 gene showed that the transition causes the skipping of exon 7. This exon skipping alters the translational reading frame of exon 8 and introduces a premature stop codon (TAA) at amino acid position 410 proximal to the heme iron-binding site essential for the enzymatic activity of CYP17. Restriction enzyme analysis showed that the patient is homozygous for the mutated CYP17 gene, and the parents are heterozygotes. This is the first reported patient with 17OHD caused by the splice site mutation in the CYP17 gene.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0021-972X
pubmed:author
pubmed:issnType
Print
pubmed:volume
82
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1934-8
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
A 5'-splice site mutation in the cytochrome P450 steroid 17alpha-hydroxylase gene in 17alpha-hydroxylase deficiency.
pubmed:affiliation
Third Department of Internal Medicine, Miyazaki Medical College, Kiyotake, Japan.
pubmed:publicationType
Journal Article, Case Reports