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Investigating probable variants and polymorphisms of sex-related genes CYP19A1, ESR1, NR5A1, SOX9, and SRY in male to female transgender individuals
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Azadeh Hasanpour1   , Mahmood Dehghani Ashkezari2 , Farzad Seyed Forootan3 , Seyed Morteza Seifati1 |
1- 1 Department of Biology, Ashk.C., Islamic Azad University, Ashkezar, Iran2 Medical Biotechnology Research Center, Ashk.C. Islamic Azad University, Ashkezar, Iran
2- 1 Department of Biology, Ashk.C., Islamic Azad University, Ashkezar, Iran2 Medical Biotechnology Research Center, Ashk.C. Islamic Azad University, Ashkezar, Iran , mdashkezary@iauashkezar.ac.ir
3- Legal Medicine Research Center, Legal Medicine Organization, Tehran, Iran |
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Abstract: (13 Views) |
Aims: Gender is a fundamental factor affecting all aspects of human’s life, and existing evidence suggests that genetic factors can play an important role in the occurrence of gender identity disorders. The aim of this study was to identify possible mutations in some genes associated with gender determination in male-to-female transgender individuals in Isfahan, Iran.
Methods: In this study, 27 men with normal karyotype (46,XY) who were diagnosed with gender identity disorder were studied. Genomic DNA was extracted from peripheral blood samples of the participants. Then, exons of the CYP19A1, ESR1, NR5A1, SOX9, and SRY genes, in which the highest mutation rates were reported, were amplified using specific primers. After sequencing, data were analyzed with FinchTV software.
Findings: Comparison of the obtained sequences with the reference sequence showed no mutations in exon 9 of the CYP19A1, exon 1 of the SOX9, and the SRY genes. In exon 4 of the ESR1 gene, a substitution mutation c.805C>T was identified in one sample and a non-pathogenic change c.975G>C in 9 samples. Also, a heterozygous mutation c.653C>T was observed in exon 4 of the NR5A1 gene in one participant. No other significant mutations were found in the other samples.
Conclusion: The findings of this study suggest that male-to-female gender identity disorder may not directly related to mutations in the studied regions of genes involved in sex determination. However, due to the limited sample size, larger studies are necessary to confirm these findings. Also, further research is needed to investigate the molecular and genetic mechanisms involved in the occurrence of gender identity. |
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| Keywords: Gender dysphoria, Gender reassignment, Mutation, Polymorphism, Sequencing, Transgender |
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Type of Article: Research Article |
Subject:
Forensic Sexology
Received: 2026/07/2 | Revised: 2026/08/11 | Accepted: 2026/08/1
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