Analysis of AR gene variant in an infant with complete androgen insensitivity syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 360-362, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-772007
ABSTRACT
OBJECTIVE@#To detect potential variant of AR gene in an infant with complete androgen insensitivity syndrome.@*METHODS@#The coding regions and splicing sites of the AR gene were subjected to PCR amplification and direct DNA sequencing. Fluorescence quantitative PCR was also used to detect copy number alterations of exons 2 to 8 of the AR gene.@*RESULTS@#Deletion of exons 2 to 8 was detected in the proband, and the results were verified among the family members.@*CONCLUSION@#Hemizygotic deletion of exons 2 to 8 of the AR gene probably underlies the complete androgen insensitivity syndrome in this infant.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Androgen-Insensitivity Syndrome
/
Base Sequence
/
Receptors, Androgen
/
Polymerase Chain Reaction
/
Exons
/
Genetics
Limits:
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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