Single nucleotide polymorphisms: discovery of the genetic causes of male infertility.

Tanaka, H; Hirose, M; Tokuhiro, K; Matsuoka, Y; Miyagawa, Y; Tsujimura, A; Okuyama, A; Nishimune, Y

Tanaka, H; Hirose, M; Tokuhiro, K; Matsuoka, Y; Miyagawa, Y; Tsujimura, A; Okuyama, A; Nishimune, Y.

Afiliación

Tanaka H; TANAKA Project, Center for Advanced Science and Innovation, Osaka University, 3-1 Yamadaoka, Suita, Osaka 565-0871, Japan. tanaka@biken.osaka-u.ac.jp

Soc Reprod Fertil Suppl ; 65: 531-4, 2007.

Article en En | MEDLINE | ID: mdl-17644991

RESUMEN

We carried out single nucleotide polymorphism (SNP) and mutation analyses of haploid germ cell-specific genes. An analysis of 13 genes associated with male infertility in approximately 300 infertile male patients and approximately 300 male volunteers with proven fertility revealed two mutations that might produce male infertility, and three SNP/mutations associated with male infertility in 13 germ cell-specific genes. These findings strongly support the hypothesis that dysfunction of germ cell-specific genes causes idiopathic human male infertility.

Asunto(s)

Infertilidad Masculina/genética; Polimorfismo de Nucleótido Simple; Espermatogénesis/genética; Análisis Mutacional de ADN; Frecuencia de los Genes; Humanos; Masculino

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Espermatogénesis / Polimorfismo de Nucleótido Simple / Infertilidad Masculina Tipo de estudio: Etiology_studies Límite: Humans / Male Idioma: En Revista: Soc Reprod Fertil Suppl Asunto de la revista: MEDICINA REPRODUTIVA Año: 2007 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido

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