Abstract：
:Molecular characterization of 23 cytogenetically confirmed XY females was attempted by screening coding regions of SRY and androgen receptor (AR) genes. Five of the index cases showed sequence variations in various exons of the AR gene: a deletion (n.1911delG) and substitutions n.1761G>A and n.1317C>T in exon 1; n.3510C>T transition in exon 6 and deletion mutation (n.3672delT) in exon 7. Four mutations identified here lead to the formation of truncated receptor protein, involving a substantial loss of AR functional domains which explains the phenotype in the subjects. The n.1761G>A substitution has been previously reported in cases with mild androgen insensitivity. Although the ligand-binding domain was considered as the mutational hot spot in AR gene, we report here 3/5 variations in the N-terminal domain emphasizing the significance of considering the N-terminal domain of AR as well for mutation screening. Our present observation also strengthens the role of AR gene and its direct association with AIS.
journal_name
J Genetjournal_title
Journal of geneticsauthors
Saranya B,Bhavani G,Arumugam B,Jayashankar M,Santhiya STdoi
10.1007/s12041-016-0716-0subject
Has Abstractpub_date
2016-12-01 00:00:00pages
911-921issue
4eissn
0022-1333issn
0973-7731journal_volume
95pub_type
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