| Autor: |
Zahra Vahidi Emami, Masoud Sheidai, Naser Kalhor |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-8 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2090-2441 |
| DOI: |
10.1186/s43042-023-00430-0 |
| Popis: |
Abstract Background Male infertility is rapidly growing, and single nucleotide polymorphism (SNP) association studies are of critical importance. Tumor suppressor candidate 1 (TUSC1) gene is associated with azoospermia. We investigated association between rs1462218557 in TUSC1 with azoospermia. Methods We performed tetra-ARMS PCR analysis and sequencing on healthy and infertile individuals. Results Tetra-ARMS PCR results revealed that the allele frequency of the SNP for T alleles was 0.66, while the same value for C allele was 0.36. It was different from the previous reports of the other countries because they reported the allele C as the frequent allele and it was considered an ancestral allele. The genotype frequencies obtained showed that 67% of the samples were heterozygotes (T/C), while 33% were homozygotes (TT). SNP-STAT analysis showed a significant association (p = 0.04) with the studied SNP and azoospermia in Iranian samples. Conclusions The present study reports a new allele frequency of rs1462218557 in TUSC1 gene, which may be associated with azoospermia in Iranian people. Moreover, no association was observed between neighboring sequences/SNPs with male infertility. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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