title: [Mutation of KLHL-10 in idiopathic infertile males with azoospermia, oligospermia or asthenospermia].
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Institute of Human Reproduction and Stem Cell Engineering, Central South University, Changsha, Hunan 410078, China. gxqqm@yahoo.com.cn
authors.forename: Qing-Ming
authors.initials: QM
authors.lastname: Qiu
authors.forename: Gang
authors.initials: G
authors.lastname: Liu
authors.forename: Wei-Na
authors.initials: WN
authors.lastname: Li
authors.forename: Qiu-Wen
authors.initials: QW
authors.lastname: Shi
authors.forename: Fu-Xi
authors.initials: FX
authors.lastname: Zhu
authors.forename: Guang-Xiu
authors.initials: GX
authors.lastname: Lu
mesh_terms: D000328:Adult; D053627:Asthenozoospermia / Q000235:genetics*; D053713:Azoospermia / Q000235:genetics*; D016022:Case-Control Studies; D005091:Exons; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009154:Mutation; D009845:Oligospermia / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C487516:KLHL10 protein, human; D011506:Proteins