[Mutation of KLHL-10 in idiopathic infertile males with azoospermia, oligospermia or asthenospermia].
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.
Qiu
Qing-Ming
QM
Institute of Human Reproduction and Stem Cell Engineering, Central South University, Changsha, Hunan 410078, China. gxqqm@yahoo.com.cn
Liu
Gang
G
Li
Wei-Na
WN
Shi
Qiu-Wen
QW
Zhu
Fu-Xi
FX
Lu
Guang-Xiu
GX
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
D047908:Intracellular Signaling Peptides and Proteins; C487516:KLHL10 protein, human; D011506:Proteins