Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism
Braz. j. med. biol. res
;
31(6): 775-8, jun. 1998. ilus, tab
Article
in English
| LILACS
| ID: lil-210965
ABSTRACT
We describe the identification of point mutations in the androgen receptor gene in five Brazilian patients with female assignment and behavior. The eight exons of the gene were amplified by the polymerase chain reaction (PCR) and analyzed for single-strand conformation polymorphism (SSCP) to detect the mutations. Direct sequencing of the mutant PCR products demonstrated single transitions in three of these cases G > A in case 1, within exon C, changing codon 615 from Arg to His; G > A in case 2, within exon E, changing codon 752 from Arg to Gln, and C > T in case 3, within exon B, but without amino acid change
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Disorders of Sex Development
/
Androgen-Insensitivity Syndrome
/
Receptors, Androgen
/
Mutation
Limits:
Adolescent
/
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Braz. j. med. biol. res
Journal subject:
Biology
/
Medicine
Year:
1998
Type:
Article
/
Project document
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