title: LMTK2 and PARP-2 gene polymorphism and azoospermia secondary to meiotic arrest.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynecology, Asahikawa Medical College, Midorigaokahigashi2-1-1-1, Asahikawa, Hokkaido, Japan.
authors.forename: Naoko
authors.initials: N
authors.lastname: Sakugawa
authors.forename: Toshinobu
authors.initials: T
authors.lastname: Miyamoto
authors.forename: Akira
authors.initials: A
authors.lastname: Tsujimura
authors.forename: Eitetsu
authors.initials: E
authors.lastname: Koh
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Miyagawa
authors.forename: Hisashi
authors.initials: H
authors.lastname: Sato
authors.forename: Mikio
authors.initials: M
authors.lastname: Namiki
authors.forename: Akihiko
authors.initials: A
authors.lastname: Okuyama
authors.forename: Kazuo
authors.initials: K
authors.lastname: Sengoku
mesh_terms: 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*
chemical_list: D008565:Membrane Proteins; C483041:PARP2 protein, human; D011065:Poly(ADP-ribose) Polymerases; C470798:LMTK2 protein, human; D017346:Protein Serine-Threonine Kinases