A novel mutation Glu441stop (GAA to TAA) of androgen receptor gene resulting in complete androgen insensitivity syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 176-179, 2011.
Article
in Chinese
| WPRIM
| ID: wpr-326969
ABSTRACT
<p><b>OBJECTIVE</b>To identify the mutation of human androgen receptor gene (AR) in a patient with complete androgen insensitivity syndrome (CAIS).</p><p><b>METHODS</b>DNA sequences of 8 exons and their exon/intron boundaries of the AR gene in the patient were amplified by PCR and directly sequenced.</p><p><b>RESULTS</b>DNA sequencing revealed a nonsense mutation in exon 1, resulting in a change of codon 441 GAA (glutamic acid) to a stop codon (TAA).</p><p><b>CONCLUSION</b>A novel mutation Glu441stop (GAA to TAA) of the androgen receptor gene leading to complete androgen insensitivity syndrome was identified in this study in a Chinese patient. It may help us further understanding the pathogenesis of CAIS.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Androgen-Insensitivity Syndrome
/
Molecular Sequence Data
/
Base Sequence
/
Receptors, Androgen
/
Polymerase Chain Reaction
/
Sequence Analysis, DNA
/
Genetics
/
Methods
/
Mutation
Type of study:
Prognostic study
Limits:
Adult
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2011
Type:
Article
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