Article
Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia.
Human molecular genetics - 1 Apr 1997
Nakae J, Tajima T, Sugawara T, Arakane F, Hanaki K, Hotsubo T, Igarashi N, Igarashi Y, Ishii T, Koda N, Kondo T, Kohno H, Nakagawa Y, Tachibana K, Takeshima Y, Tsubouchi K, Strauss J F, Fujieda K
Abstract excerpt
Genomic DNA from 19 Japanese patients with congenital lipoid adrenal hyperplasia (lipoid CAH) representing 16 different families was examined to identify the genetic alterations of steroidogenic acute regulatory protein (StAR). Ten of 19 patients had a 46,XX karyotype and nine had a 46,XY karyotype. Six of the 46,XX patients have experienced spontaneous pubertal changes including breast development and irregular...
Topics
- Adrenal Hyperplasia, Congenital
- Animals
- COS Cells
- Chorionic Gonadotropin
- Electrophoresis, Polyacrylamide Gel
- Female
- Gene Expression
- Genes, Recessive
- Genetic Markers