LMTK2 and PARP-2 gene polymorphism and azoospermia secondary to meiotic arrest.
OBJECTIVE
To investigate whether the human LMTK2 and PARP-2 gene defects are associated with azoospermia by meiotic arrest, mutational analysis was performed on Japanese men with azoospermia.


METHODS
Via direct sequencing, mutational screening was carried out on the exon region of the genes, using genomic DNAs from 18 Japanese men. Statistical analysis was done on the detected single nucleotide polymorphisms (SNPs) in the patients and normal controls.


RESULTS
Nine SNPs were detected in LMTK2 and five SNPs were detected in PARP-2. There were no significant differences in the genotype distribution and allele frequencies between the two groups in LMTK2. However, the genotype frequency of heterozygotes in SNP1 of PARP-2 was higher in the patient group. The haplotype analysis revealed that SNP1-SNP4 (T-A) of PARP-2 was significantly more frequent in the patient group.


CONCLUSIONS
The PARP-2 gene might be associated with azoospermia by meiotic arrest in humans.
Sakugawa
Naoko
N
Department of Obstetrics and Gynecology, Asahikawa Medical College, Midorigaokahigashi2-1-1-1, Asahikawa, Hokkaido, Japan.
Miyamoto
Toshinobu
T
Tsujimura
Akira
A
Koh
Eitetsu
E
Miyagawa
Yasushi
Y
Sato
Hisashi
H
Namiki
Mikio
M
Okuyama
Akihiko
A
Sengoku
Kazuo
K
D053713:Azoospermia / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007564:Japan; D008297:Male; D008540:Meiosis; D008565:Membrane Proteins / Q000235:genetics*; D011065:Poly(ADP-ribose) Polymerases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
D008565:Membrane Proteins; C483041:PARP2 protein, human; D011065:Poly(ADP-ribose) Polymerases; C470798:LMTK2 protein, human; D017346:Protein Serine-Threonine Kinases