[Mutation of KLHL-10 in idiopathic infertile males with azoospermia, oligospermia or asthenospermia].
Zhonghua Nan Ke Xue
; 15(11): 974-9, 2009 Nov.
Article
em Zh
| MEDLINE
| ID: mdl-20218307
ABSTRACT
OBJECTIVE:
To investigate the relationship of the mutation of the spermatogenesis-associated gene KLHL-10 with azoospermia, oligospermia and asthenospermia.METHODS:
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.RESULTS:
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.CONCLUSION:
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.
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Base de dados:
MEDLINE
Assunto principal:
Oligospermia
/
Proteínas
/
Astenozoospermia
/
Azoospermia
Tipo de estudo:
Observational_studies
/
Risk_factors_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
Zh
Ano de publicação:
2009
Tipo de documento:
Article