Polymerase chain reaction (PCR), followed by restriction digestion is universally used for molecular diagnosis of spinal muscular atrophy (SMA). In the present study, we have used a modified strategy based on amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) to develop a rapid and reliable method for mutation detection and prenatal diagnosis in SMA patients. The telo...

BACKGROUND The PIWI-interacting RNA (piRNA) pathway has an essential role in transposon silencing, meiosis progression, spermatogenesis, and germline maintenance. HIWI genes are critical for piRNA biogenesis and function. Therefore, polymorphisms in HIWI genes contribute to spermatogenesis defects and can be considered as risk factors for male infertility. The aim of the present study was to in...

Cysteine-cysteine chemokine ligand 5 (CCL5) with immunoregulatory and inflammatory activities has an important role in granuloma formations that activates and stimulates T-cells and macrophages. Cysteine-cysteine chemokine receptor 5 (CCR5) is a chemokine receptor, which is important for migration of immune cells to site of infection. In the present study we investigated the possible associatio...

Abstract Objective The NUDT15 variants impact thiopurine dose selection in acute lymphoblastic leukemia patients. ability to rapidly detect is important clinical practice. This study aims develop a simple polymerase chain reaction (PCR) procedure for detecting Vietnamese Materials and Methods Sanger sequencing was used determine from 200 We designed primers optimized the PCR detection of wild-t...

Kell blood group system (KBGS) plays a vital role in transfusion medicine and bears multidimensional character. antigens are very reactive responses can be observed case of mismatched blood. This research is aimed to check the frequency prevalence different antibodies (KELL1, KELL2, KELL3, KELL4) KEL gene local population four cities Punjab, Pakistan. To this end, two hundred volunteers (from e...

Background: It is estimated that about 3,000 pregnancies in Iran are at risk for b-thalassemia each year. Objective: To evaluate the diagnostic accuracy of combination of ARMS/PCR and  RFLP/PCR techniques in prenatal diagnosis of b-thalassemia.Methods: Sixty-seven b-thalassemia carrier families were enrolled in this study. To analyze b-globin gene, amplification refractory mutation system (ARMS...