A novel insertion-induced frameshift mutation of the androgen receptor gene in a patient with primary amenorrhea.

ABSTRACT:

Objective

To report a novel single nucleotide insertion mutation, and present the clinical, genetic, biochemical findings in a patient with primary amenorrhea.

Methods

Chromosomal analysis was performed by harvesting lymphocytes from peripheral blood sample. Hormonal analysis was performed from the serum. After genomic DNA extraction from peripheral blood leukocytes the coding regions and corresponding exon-intron boundaries of sex-determining region Y (SRY) gene and androgen receptor (AR) gene were amplified by PCR and subjected to direct sequencing.

Results

In the patient with a karyotype 46,XX, we identified a novel single nucleotide insertion mutation of the nucleotide G at position 2369 (GenBank accession number HM010955), resulting in amino acid interchange cyst

SUBMITTER: Sharma V 

PROVIDER: S-EPMC4287795 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature