Germline study of AR gene of Indian women with ovarian failure.
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.
Panda
Bineet
B
Centre for Cellular and Molecular Biology, Hyderabad-500007, India.
Rao
Lakshmi
L
Tosh
Durgadatta
D
Dixit
Hridesh
H
Padmalatha
Venkata
V
Kanakavalli
Murthy
M
Raseswari
Turlapati
T
Deenadayal
Mamata
M
Gupta
Nalini
N
Chakrabarty
Baidyanath
B
Nallari
Pratibha
P
Singh
Lalji
L
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*
C410798:AR protein, human; D011944:Receptors, Androgen