Document Detail

Androgen insensitivity syndrome: do trinucleotide repeats in androgen receptor gene have any role?
MedLine Citation:
PMID:  18097504     Owner:  NLM     Status:  MEDLINE    
AIM: To investigate the role of CAG and GGN repeats as genetic background affecting androgen insensitivity syndrome (AIS) phenotype. METHODS: We analyzed lengths of androgen receptor (AR)-CAG and GGN repeats in 69 AIS cases, along with 136 unrelated normal male individuals. The lengths of repeats were analyzed using polymerase chain reaction (PCR) amplification followed by allelic genotyping to determine allele length. RESULTS: Our study revealed significantly shorter mean lengths of CAG repeats in patients (mean 18.25 repeats, range 14-26 repeats) in comparison to the controls (mean 22.57 repeats, range 12-39 repeats) (two-tailed P < 0.0001). GGN repeats, however, did not differ significantly between patients (mean 21.48 repeats) and controls (mean 21.21 repeats) (two-tailed P = 0.474). Among patients' groups, the mean number of CAG repeats in partial androgen insensitivity cases (mean 15.83 repeats) was significantly less than in complete androgen insensitivity cases (mean 19.46 repeats) (two-tailed P < 0.0001). CONCLUSION: The findings suggest that shorter lengths of repeats in the AR gene might act as low penetrance genetic background in varying manifestation of androgen insensitivity.
Singh Rajender; Nalini J Gupta; Baidyanath Chakravarty; Lalji Singh; Kumarasamy Thangaraj
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-12-20
Journal Detail:
Title:  Asian journal of andrology     Volume:  10     ISSN:  1008-682X     ISO Abbreviation:  Asian J. Androl.     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-05-14     Completed Date:  2008-07-29     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100942132     Medline TA:  Asian J Androl     Country:  China    
Other Details:
Languages:  eng     Pagination:  616-24     Citation Subset:  IM    
Centre for Cellular and Molecular Biology, Hyderabad, India.
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MeSH Terms
Androgen-Insensitivity Syndrome / genetics*
DNA / genetics
Follicle Stimulating Hormone / blood
Genetic Predisposition to Disease
Luteinizing Hormone / blood
Receptors, Androgen / genetics*
Regression Analysis
Testosterone / blood
Trinucleotide Repeats / genetics*
Reg. No./Substance:
0/Receptors, Androgen; 58-22-0/Testosterone; 9002-67-9/Luteinizing Hormone; 9002-68-0/Follicle Stimulating Hormone; 9007-49-2/DNA

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