Mutation of KLHL-10 in Idiopathic Infertile Males with Azoospermia,Oligospermia or Asthenospermia
QIU Qing-ming
LIU Gang
LI Wei-na
SHI Qiu-wen
ZHU Fu-xi
LU Guang-xiu
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 (CA24→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.
Keywords：KLHL-10 genemale infertilitygene mutationmutation screeningsingle nucleotide polymorphism
Publication Date：2009-10-26
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 974-979 )