RESUMEN
Background: Acute lymphoblastic leukemia (ALL) is resulted from the infiltration of high amount of non-differentiated cells in bone marrow. Differentiation of the hematopoietic stem cells into specific cell lineage occurs through a highly regulated pathway which is mainly monitored during transcription step. Expression level and pattern of transcription factors e.g. PU.1 determine fate and developmental phases in this pathway. This study was performed to evaluate the expression level of the PU.1 gene in a group of children suffering from ALL. Materials and Methods: The mRNA expression level of the PU.1 gene was compared between 30 children diagnosed as new cases of ALL and 30 sex- and gender-matched healthy children in the present case-control study. The quantitative real time PCR (qRT-PCR) was used to determine the level of PU.1 gene expression. The data were analyzed using Graph Pad Prism statistical software. Results: The mRNA level of the PU.1 gene was significantly lower in the blood samples of the ALL patients compared to the controls (p= 0.002). Conclusion: The results of the study indicated that the PU.1 gene seemed to have key roles in the differentiation pathway of blood cells.
RESUMEN
BACKGROUND: Y chromosome deletions (YCDs) in azoospermia factor (AZF) region are associated with abnormal spermatogenesis and may lead to azoospermia or severe oligozoospermia. Assisted reproductive technologies (ART) by intracytoplasmic sperm injection (ICSI) and testicular sperm extraction (TESE) are commonly required for infertility management of patients carrying YCDs. The aim of this study was to estimate the frequency of YCDs, to find the most frequent variant in infertile men candidate for ART and to compare YCD distribution with a control fertile group. The semen parameters, hormonal profiles and ART outcomes of the infertile group were studied. MATERIALS AND METHODS: This case-control study consisted of 97 oligozoospermic or non-obstructive azoospermic (NOA) infertile men, who had undergone ART, as the case group and 100 fertile men as the control group. DNA samples were extracted from blood samples taken from all 197 participants and YCDs were identified by multiplex polymerase chain reaction (PCR) of eight known sequence-tagged sites. The chi-square test was used to compare the mean values of hormone and sperm parameters between the two groups. P<0.05 was considered statistically significant. RESULTS: No YCD was detected in the control group. However, 20 out of 97 (20.6%) infertile men had a YCD. AZFc, AZFbc and AZFabc deletions were detected in 15 (75%), four (20%) and one (5%) YCD-positive patients. No fertilization or clinical pregnancy was seen following ICSI in this sub-group with YCD. The mean level of FSH was significantly higher in the group with YCD (28.45 ± 22.2 vs. 4.8 ± 3.17 and 10.83 ± 7.23 in YCD-negative patients with and without clinical pregnancy respectively). CONCLUSION: YCD is frequent among NOA men and YCD screening before ART and patient counseling is thus strongly recommended.