• PMID: 19806447
• Gene Name: LMTK2
• Condition: Azoospermia, meiotic arrest
• Association: The PARP-2 gene might be associated with azoospermia by meiotic arrest in humans.
• Mutation: LMTK2(381 C/G:Pro/Ala, 2371T/C Ile/Thr, 2631T/A Leu/Met, 2726G/A Synonymous GA, 2726G/A Synonymous GA, 3164C/T Synonymous CT, 3641G/A Synonymous GA, 4145A/G Synonymous AG, 5277T/C 3?UTR TC ), PARP (1159C/T Synonymous, 1359G/A Arg/Gln, 1469A/C Asn/His, 178
• Population size: 18
• Population details: 18 Japanese men with azoospermia
• Sex: Male
• Infertility type: Male infertility
• Associated genes: LMTK2, PARP-2
• Other associated phenotypes: Azoospermia, meiotic arrest

LMTK2 and PARP-2 gene polymorphism and azoospermia secondary to meiotic arrest

Sakugawa N, Miyamoto T, Tsujimura A, Koh E, Miyagawa Y, Sato H, Namiki M, Okuyama A, Sengoku K.

PURPOSE: 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. CONCLUSION: The PARP-2 gene might be associated with azoospermia by meiotic arrest in humans. FAU - Sakugawa, Naoko AU - Sakugawa N AD - Department of Obstetrics and Gynecology, Asahikawa Medical College, Midorigaokahigashi2-1-1-1, Asahikawa, Hokkaido, Japan. FAU - Miyamoto, Toshinobu AU - Miyamoto T FAU - Tsujimura, Akira AU - Tsujimura A FAU - Koh, Eitetsu AU - Koh E FAU - Miyagawa, Yasushi AU - Miyagawa Y FAU - Sato, Hisashi AU - Sato H FAU - Namiki, Mikio AU - Namiki M FAU - Okuyama, Akihiko AU - Okuyama A