LMTK2 and PARP-2 gene polymorphism and azoospermia secondary to meiotic arrest
| العنوان: | LMTK2 and PARP-2 gene polymorphism and azoospermia secondary to meiotic arrest |
|---|---|
| المؤلفون: | Toshinobu Miyamoto, Naoko Sakugawa, Yasushi Miyagawa, Eitetsu Koh, Akira Tsujimura, Akihiko Okuyama, Mikio Namiki, Hisashi Sato, Kazuo Sengoku |
| المصدر: | Journal of Assisted Reproduction and Genetics. 26:545-552 |
| بيانات النشر: | Springer Science and Business Media LLC, 2009. |
| سنة النشر: | 2009 |
| مصطلحات موضوعية: | Male, endocrine system, Genotype, endocrine system diseases, DNA Mutational Analysis, Protein Serine-Threonine Kinases, Biology, urologic and male genital diseases, Bioinformatics, Polymorphism, Single Nucleotide, LMTK2, Gene Frequency, Japan, Polymorphism (computer science), Genetics, medicine, Humans, Genetic Predisposition to Disease, Andrology, Gene, reproductive and urinary physiology, Genetics (clinical), Azoospermia, urogenital system, Membrane Proteins, Obstetrics and Gynecology, General Medicine, medicine.disease, Human genetics, Meiosis, Haplotypes, Reproductive Medicine, Cancer research, Gene polymorphism, Poly(ADP-ribose) Polymerases, Developmental Biology |
| الوصف: | 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.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.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.The PARP-2 gene might be associated with azoospermia by meiotic arrest in humans. |
| تدمد: | 1573-7330 1058-0468 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b463c623322ec9318d3787c9d7bc8ecTest https://doi.org/10.1007/s10815-009-9347-1Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....9b463c623322ec9318d3787c9d7bc8ec |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15737330 10580468 |
|---|