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.
Artigo
em Chinês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Síndrome de Resistência a Andrógenos
/
Sequência de Bases
/
Receptores Androgênicos
/
Reação em Cadeia da Polimerase
/
Éxons
/
Genética
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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