title: Germline study of AR gene of Indian women with ovarian failure.
abstract: OBJECTIVE
  Present study was designed for carrying out the mutational analysis of the entire Androgen receptor (AR) gene including two microsatellite (CAG)n, (GGN)n, promoter region in cases of premature ovarian failure (POF) and primary amenorrhea (PA).
  
  
  METHODS
  Previous reports of AR knockout mice model showed POF phenotype, this draws an attention on the role of AR gene in the aetiology of POF for the case-control association studies in POF samples (n = 133), PA samples (n = 63) and control samples (n = 200).
  
  
  RESULTS
  We identified six mutations including four novel mutations, i.e. c.636G > A, c.1885 + 9C > A, c.1948A > G, c.1972C > A, and two previously reported mutations, i.e. c.639G > A, c.2319-78T > G. Repeat length variation was noted in the two microsatellite regions CAG and GGN, located in the coding region of exon 1 at the N-terminal region of the AR gene. The CAG repeat length was homogeneously distributed with the same frequency and no association among all cases and controls. The GGN repeat showed a significant association among the SS and SL allele with p = 0.0231 and p = 0.0476, respectively, among the POF/control samples.
  
  
  CONCLUSIONS
  Thus, AR gene mutations may play a role in the genetic cause of POF. Identification of the underlying genetic alteration of the AR gene is important for a proper diagnosis of POF subjects.
authors.affiliation: Centre for Cellular and Molecular Biology, Hyderabad-500007, India.
authors.forename: Bineet
authors.initials: B
authors.lastname: Panda
authors.forename: Lakshmi
authors.initials: L
authors.lastname: Rao
authors.forename: Durgadatta
authors.initials: D
authors.lastname: Tosh
authors.forename: Hridesh
authors.initials: H
authors.lastname: Dixit
authors.forename: Venkata
authors.initials: V
authors.lastname: Padmalatha
authors.forename: Murthy
authors.initials: M
authors.lastname: Kanakavalli
authors.forename: Turlapati
authors.initials: T
authors.lastname: Raseswari
authors.forename: Mamata
authors.initials: M
authors.lastname: Deenadayal
authors.forename: Nalini
authors.initials: N
authors.lastname: Gupta
authors.forename: Baidyanath
authors.initials: B
authors.lastname: Chakrabarty
authors.forename: Pratibha
authors.initials: P
authors.lastname: Nallari
authors.forename: Lalji
authors.initials: L
authors.lastname: Singh
mesh_terms: D000328:Adult; D000568:Amenorrhea / Q000235:genetics; D019943:Amino Acid Substitution; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D018095:Germ-Line Mutation; D006801:Humans; D007194:India; D007438:Introns; D018895:Microsatellite Repeats; D020641:Polymorphism, Single Nucleotide; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D011401:Promoter Regions, Genetic; D011944:Receptors, Androgen / Q000235:genetics*
chemical_list: C410798:AR protein, human; D011944:Receptors, Androgen