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1.
IJMS-Iranian Journal of Medical Sciences. 2008; 33 (1): 33-36
em Inglês | IMEMR | ID: emr-163071

RESUMO

Indirect genetic diagnosis using polymorphic DNA markers can detect carriers of hemophilia A. This technique is preferable in developing countries because of its simplicity and cost effectiveness compared to direct mutation analysis. In the present study, we examined usefulness of intragenic marker BclI restriction fragment length polymorphism [RFLP] at intron 18, for carrier detection. How this marker is informative was tested in 102 members of 16 hemophiliac families from Sistan and Baluchestan province, Southeast of Iran. Blood samples were obtained from 29 hemophilia A patients and 73 of their relatives, after taking informed consents. DNA was extracted using proteinase K digestion followed by DNA precipitation. Factor VIII gene polymorphism was identified by the polymerase chain reaction/RFLP which is both sensitive and economical. Our results showed that almost 69.8% of Xchromosomes had restriction site for BclI enzyme. The heterozygosity rate for BclI polymorphism in tested women was 61.4%, signifying the usefulness of this marker in carrier detection. The informative rate respecting this polymorphism was 43.7% meaning that a remarkable percent of families from the target population could be diagnosed using this marker alone. In Sistan and Baluchestan province where there is limited access to sophisticated facilities of molecular diagnosis, use of PCR-based analysis of DNA polymorphism in the BclI locus can be used to identify a remarkable percentage of the carriers and even for prenatal diagnosis. Meanwhile, it is necessary to evaluate the effectiveness of other polymorphic DNA markers to enhance the informative rate


Assuntos
Humanos , Portador Sadio , Polimorfismo de Fragmento de Restrição , Hemofilia A/genética , Heterozigoto
2.
Iranian Journal of Veterinary Research. 2007; 62 (1): 39-43
em Persa | IMEMR | ID: emr-146231

RESUMO

Perforation of the wall of the reticulum by a sharp foreign body often produces peritonitis and can cause involvement of other organs. In cattle the disease is economically important because of severe loss of production and high mortality rate. The objective of this study was to determine the presence and kinds of foreign bodies in apparently healthy buffaloes which were slaughtered in Ahvaz abattoir. In addition, adhesion of reticulum was studied. The animals [n = 200] were selected from both sexes and divided into three age groups[group 1: less than 2.5 years old, group 2: 2.5-5.5 years old and group 3: more than 5.5 years old]. Adhesion of reticulum was seen in 43 buffaloes and there were significant difference between sexes and different age groups [p < 0.05]. In 73 buffaloes, foreign bodies were found. Furthermore, 14 pieces of metallic foreign bodies penetrated the wall of reticulum in 13 buffaloes. According to the presence of foreign bodies, there were no significant difference between sexes and among different age groups [p > 0.05]. A relation between adhesion and presence of metallic foreign bodies was seen


Assuntos
Animais , Búfalos , Retículo , Matadouros
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