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Frame-shift Mutation in Hormone Binding Domain of Human Androgen Receptor Gene Causes Complete Androgen Insensitivity

Title
Frame-shift Mutation in Hormone Binding Domain of Human Androgen Receptor Gene Causes Complete Androgen Insensitivity
Authors
Chung H.-W.Kim S.-C.Kim H.-L.
Ewha Authors
김형래김승철정혜원
SCOPUS Author ID
김형래scopus; 김승철scopus; 정혜원scopus
Issue Date
1998
Journal Title
Molecules and Cells
ISSN
1016-8478JCR Link
Citation
vol. 8, no. 6, pp. 741 - 745
Indexed
SCI; SCIE; SCOPUS; KCI WOS scopus
Abstract
Mutation of the human androgen receptor gene impairs normal sexual differentiation and development in karyotypic males, resulting in a spectrum of external genital phenotypes ranging from complete female to nearly complete male. The androgen insensitivity syndrome (AIS) is an X-linked disorder in which genetic males fail to undergo normal fetal masculinization or pubertal virilization. PCR amplification of AR exons followed by SSCP analysis was performed with the genomic DNA of a patient having complete AIS. Mutation was observed at the exon E, where a single nucleotide deletion of T at the nucleotide 3286 was observed by cyclic sequencing. A single base deletion in Exon E in the hormone binding domain causes a frame-shift mutation, which leads to changes in the open reading frame, and causes the early termination of AR synthesis. The structural change of the hormone binding domain and AR might cause an insensitivity to the androgen thus leading to AIS.
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의학전문대학원 > 의학과 > Journal papers
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