Mutation of the KAL1 gene in 30 male patients with idiopathic hypogonadotropic hypogonadism / 中华男科学杂志
National Journal of Andrology
;
(12): 32-37, 2011.
Artigo
em Chinês
| WPRIM
| ID: wpr-266216
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the mutation of the KAL1 gene in male patients with idiopathic hypogonadotropic hypogonadism (IHH).</p><p><b>METHODS</b>We analyzed the exon mutation of the KAL1 gene in 30 IHH patients using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with the PCR product direct sequencing technique.</p><p><b>RESULTS</b>Three cases of the KAL1 gene mutation were found among the total number of patients, including 1 case of nonsense mutation (c. 1270C > T,p. R424X), and 2 cases of frameshift mutation, (c. 279_280delAG,p. G94fs) and (c. 1886_1887delTT,p. L629fs).</p><p><b>CONCLUSION</b>Of the 3 cases of the KAL1 gene mutation we detected, 2 are new and 1 already reported in the literature. The results of our study have provided valuable information on the molecular genetics of the IHH syndrome.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Análise Mutacional de DNA
/
Sequência de Bases
/
Éxons
/
Proteínas da Matriz Extracelular
/
Síndrome de Kallmann
/
Polimorfismo Conformacional de Fita Simples
/
Genética
/
Hipogonadismo
/
Mutação
/
Proteínas do Tecido Nervoso
Limite:
Adolescente
/
Adulto
/
Criança
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
National Journal of Andrology
Ano de publicação:
2011
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS