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1.
International Journal of Endocrinology and Metabolism. 2009; 7 (2): 67-71
em Inglês | IMEMR | ID: emr-125368

RESUMO

Premature ovarian failure [POF] is characterized by hypergonadotropic amenorrhea, before the age of 40, for which the Inhibin alpha-submit [INH alpha] gene is proposed as a candidate gene, due to its role in negative feedback control of FSH. In this study we aimed at demonstrating the candidate mutation as a gene variation associated with POF in Iranian population. Using DNA sequencing, DNA samples of 24 women with POF and 24 controls aged below 40 years, were screened for mutations in the Inhibin gene. The 769G[right wards arrow] A mutation in exon 2 of the Inhibin alpha gene was found in four out of 24 idiopathic POF patients. The results obtained in this study have shown that this variation is more frequent in patients with POF than in normal fertile populations of Iran


Assuntos
Humanos , Feminino , Adulto , Mutação/genética , Insuficiência Ovariana Primária/genética , Reação em Cadeia da Polimerase
2.
IJMS-Iranian Journal of Medical Sciences. 2004; 29 (4): 180-184
em Inglês | IMEMR | ID: emr-66043

RESUMO

Correlations between bone marrow, heart, kidney, liver, skin and lung transplant rejection or survival with human cytokine gene polymorphisms have been described. There are also reports about the role of cytokines and Tumor Necrosis Factors-Alpha [TNF-alpha] on corneal transplant in animal models. Further studies are needed to clarify the role of cytokines in corneal allograft rejection in humans. To study whether corneal allograft rejection is associated with TNF-alpha gene polymorphism. A total of 105 cases of corneal transplant were followed for a mean period of 25.9 months and the episodes of rejections recorded. We determined allele-specific PCR [ASPCR] TNF-alpha gene polymorphism of the patients and evaluated their association with rejection. Results; The overall incidence of corneal graft rejection and its subsequent recovery were 21% and 63.6% respectively. Rejection was more common in the vascularized corneas [5.4 folds; P<0.001], and in eyes with anterior synechia [3.9 fold; P<0.05]. There was no correlation between TNF-alpha gene polymorphism and the chance of allograft rejection. No association was found between human TNF-alpha 308 G/A promoter gene polymorphism and corneal allograft rejection in our cases of uncomplicated penetrating keratoplasty


Assuntos
Humanos , Feminino , Masculino , Rejeição de Enxerto , Transplante Homólogo , Fator de Necrose Tumoral alfa/genética , Polimorfismo Genético , Genes
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