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.
PURPOSE: To investigate whether the humanLMTK2 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.
Authors: Arkady Celeste; Simone Petersen; Peter J Romanienko; Oscar Fernandez-Capetillo; Hua Tang Chen; Olga A Sedelnikova; Bernardo Reina-San-Martin; Vincenzo Coppola; Eric Meffre; Michael J Difilippantonio; Christophe Redon; Duane R Pilch; Alexandru Olaru; Michael Eckhaus; R Daniel Camerini-Otero; Lino Tessarollo; Ferenc Livak; Katia Manova; William M Bonner; Michel C Nussenzweig; André Nussenzweig Journal: Science Date: 2002-04-04 Impact factor: 47.728
Authors: Michael A Crackower; Nadine K Kolas; Junko Noguchi; Renu Sarao; Kazuhiro Kikuchi; Hiroyuki Kaneko; Eiji Kobayashi; Yasuhiro Kawai; Ivona Kozieradzki; Rushin Landers; Rong Mo; Chi-Chung Hui; Edward Nieves; Paula E Cohen; Lucy R Osborne; Teiji Wada; Tetsuo Kunieda; Peter B Moens; Josef M Penninger Journal: Science Date: 2003-05-23 Impact factor: 47.728
Authors: R Reijo; T Y Lee; P Salo; R Alagappan; L G Brown; M Rosenberg; S Rozen; T Jaffe; D Straus; O Hovatta Journal: Nat Genet Date: 1995-08 Impact factor: 38.330
Authors: Magdolna Szántó; Attila Brunyánszki; Borbála Kiss; Lilla Nagy; Pál Gergely; László Virág; Péter Bai Journal: Cell Mol Life Sci Date: 2012-05-13 Impact factor: 9.261
Authors: Daniel F Cruz; Nilay Mitash; Fangping Mu; Carlos M Farinha; Agnieszka Swiatecka-Urban Journal: Front Oncol Date: 2021-03-18 Impact factor: 6.244