- 作者：Abilash V.G.a ; abilash.vg@vit.ac.in" class="auth_mail" title="E-mail the corresponding author ; Radha S.a ; Marimuthu K.M.b ; Thangaraj K.c ; Arun S.d ; Nishu S.a ; Mohana Priya A.e ; Meena J.f ; Anuradha D.f
- 关键词：Androgen receptor gene ; Androgen insensitivity syndrome ; Polymerase chain reaction (PCR) ; DNA-binding domain ; Ligand binding domain
- 刊名：Clinica Chimica Acta
- 出版年：2016
- 出版时间：30 January 2016
- 年：2016
- 卷：453
- 期：Complete
- 页码：123-130
- 全文大小：662 K
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DNA Sequence analysis of the AR gene showed three mutations
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c.C1713 > G missense mutation, resulting in the replacement of a highly conserved histidine residue with glutamine (H571Q) in DNA-binding domain of androgen receptor gene.
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c.A1715 > G missense mutation, resulting in the replacement of a highly conserved tyrosine residue with cysteine (Y572C) in DNA-binding domain of androgen receptor gene
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c.G2599 > A missense mutation, resulting in the replacement of a highly conserved valine residue with methionine (V867M) in ligand-binding domain of androgen receptor.
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The mutations H571Q and V867M were present in mothers of the patients of familial cases concluding the mutation was inherited from mother.
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The novel mutation c.C1713 > G is reporting first time in androgen insensitivity syndrome.