Abstract | INTRODUCTION: MATERIAL AND METHODS: The main objective of this study was to determine the molecular cause of androgen insensitivity syndrome in a 46,XY female patient. Molecular analysis of the AR gene was conducted using MSSCP (Multitemperature Single Strand Conformation Polymorphism) and sequencing methods. RESULTS: MSSCP analysis showed changes in electrophoretic mobility in exon 8 of the AR gene. Sequencing analysis revealed a missense mutation which has not been previously described. This is a c.T3816 > C transition mutation which causes a S901P substitution in the amino acid chain (based on the latest NCBI reference sequence NM 000044.2). CONCLUSIONS: The identified c.T3816 > C mutation in AR gene provides further evidence for the correlation between specific AR mutations and phenotype corresponding to androgen insensitivity.
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Authors | Zofia Helszer, Anita Dmochowska, Edyta Borkowska, Hanna Moczulska, Jolanta Słowikowska-Hilczer, Michał Pietrusiński, Sławomir Jędrzejczyk, Bogdan Kałużewski |
Journal | Endokrynologia Polska
(Endokrynol Pol)
Vol. 64
Issue 5
Pg. 398-402
( 2013)
ISSN: 2299-8306 [Electronic] Poland |
PMID | 24186597
(Publication Type: Case Reports, Journal Article)
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Chemical References |
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Topics |
- Adult
- Androgen-Insensitivity Syndrome
(genetics)
- Base Sequence
- Female
- Gonadal Dysgenesis, 46,XY
(genetics)
- Humans
- Male
- Models, Molecular
- Molecular Sequence Data
- Mutation, Missense
- Receptors, Androgen
(chemistry, genetics)
- Young Adult
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