Molecular Genetics of Androgen Insensitivity
January 1995
in “
Adolescent and pediatric gynecology
”
androgen insensitivity syndromes AIS androgen receptor gene X chromosome mutations complete androgen insensitivity CAIS partial androgen insensitivity PAIS point mutation codon 686 ligand binding transcriptional activity PCR Southern blot analysis SSCP Kennedy's disease CAG repeat molecular screening tests regulation of androgen receptor gene environmental factors AIS phenotypes androgen insensitivity androgen receptor genetic mutations complete androgen insensitivity partial androgen insensitivity point mutation PCR Southern blot SSCP Kennedy's disease CAG repeat molecular screening gene regulation environmental factors
TLDR Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
The 1995 document reviewed the molecular genetics of androgen insensitivity syndromes (AIS), focusing on the role of mutations in the androgen receptor gene located on the X chromosome. These mutations result in varying degrees of resistance to androgen actions, leading to a spectrum of clinical features from complete androgen insensitivity (CAIS) to partial androgen insensitivity (PAIS). The document highlighted specific mutations, such as a point mutation at codon 686, and their effects on androgen receptor function, including altered ligand binding and decreased transcriptional activity. Techniques like PCR, Southern blot analysis, and SSCP were used to identify mutations. The paper also touched on Kennedy's disease, related to an expanded CAG repeat in the androgen receptor gene. The conclusion noted that while the understanding of AIS has advanced, the diversity of mutations presents challenges for developing simple molecular screening tests, and future research was directed towards further exploring the regulation of the androgen receptor gene and the influence of environmental factors on AIS phenotypes.
