Mutation of KLHL-10 in idiopathic infertile males with azoospermia, oligospermia or asthenospermia / 中华男科学杂志
National Journal of Andrology
;
(12): 974-979, 2009.
Artículo
en Chino
| WPRIM
| ID: wpr-252847
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the relationship of the mutation of the spermatogenesis-associated gene KLHL-10 with azoospermia, oligospermia and asthenospermia.</p><p><b>METHODS</b>Genomic DNA was extracted from the peripheral blood samples of 325 patients with idiopathic azoospermia (n = 11), oligozoospermia (n = 196) or asthenospermia (n = 118) and 100 fertile male controls. KLHL-10 mutations were detected for all the DNA specimens by PCR, DHPLC and sequencing techniques.</p><p><b>RESULTS</b>A novel heterozygous mutation (C88 --> A) was identified in exon 1 from 1 oligospermia patient and 3 fertile male controls and another one (C424 --> A) confirmed in exon 2 from 4 fertile controls, 3 oligospermia patients and 1 asthenospermia man. Both of the mutations were synonymous, but neither missense mutation nor microdeletion of the KLHL-10 gene was found.</p><p><b>CONCLUSION</b>The KLHL-10 gene is not a major contributor to azoospermia, oligospermia or asthenospermia in Chinese population. The value of this gene in the diagnosis of male infertility remains to be further investigated.</p>
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Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Oligospermia
/
Proteínas
/
Estudios de Casos y Controles
/
Exones
/
Astenozoospermia
/
Azoospermia
/
Frecuencia de los Genes
/
Genética
/
Genotipo
/
Mutación
Tipo de estudio:
Estudio observacional
/
Factores de riesgo
Límite:
Adulto
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
National Journal of Andrology
Año:
2009
Tipo del documento:
Artículo
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