Frequent homozygous deletion of p16/CDKN2A gene in malignant gliomas of Iranian patients

Homozygous deletion is the main mechanism of CDKN2A gene inactivation in malignant gliomas. However different frequencies were reported for its deletion. In order to find the homozygous deletion frequency among Iranian patients, we have analyzed the status of CDKN2A gene in 40 malignant gliomas and examined their 1α and 2 exons by comparative multiplex Polymerase Chain Reaction (PCR), using D9S171 chromosomal marker as an internal control. We found homozygous deletion in 6 out of 7 cases (85.7) of anaplastic astrocytomas and 20 out of 33 cases (60.6) of glioblastoma multiforme, in total 26 out of 40 cases (65) of malignant gliomas. We also found that CDKN2A deleted patients were younger than CDKN2A non-deleted patients and that exon 2 was deleted more than exon 1α. © 2007 Asian Network for Scientific Information

Screening of prognostic factors using multiplex RT-PCR technique on different leukemic cell lines

"nBackground: Leukemia is one of the most common pediatric malignancies. T-cell Acute Lymphoblastic Leukemia (T-ALL) accounts for 15% of hematopoetic cancers. It has been well understood that identification of genetic alterations associated with leukemias is very critical. The molecular genetic techniques have promoted the identification of leukemia-associated genetic changes that may characterize the most accurate predictors of clinical outcome. These considerations reinforce the requirement for rapid identification of the abnormalities. "nMethods: Multiplex RT-PCR, a highly sensitive and specific method applied to screen simultaneously three most frequent transcription factors, TLX1/HOX11, TLX3/HOX11L2 and TAL1/SCL which are associated with T-cell Acute Lymphoblastic Leukemia (T-ALL). "nResults: We describe here our efforts to establish a multiplex RT-PCR analysis system that facilitates the detection of HPB-ALL and K562 cell lines, respectively. "nConclusion: The multiplex RT-PCR technique is a sensitive, valuable and cost-effective diagnostic tool which could improve our ability to accurately and rapidly risk-stratification of patients with childhood T-ALL. In order to perform multiplex RT-PCR technique researchers do not need bone marrow samples and they can employ this method using peripheral blood samples. Therefore, the status of treatment could be followed by assessment of the level of mRNA expression of oncogenic transcriptional factor using peripheral blood sample. Use of this procedure not only provides the best results in short term for specialist, but also clinicians could have opportunities to choose suitable treatment strategies with decrement of drug side effects

The Spectrum of β -Thalassemia Mutations in Isfahan Province of Iran

Background: β -thalassemia is a common autosomal recessive disorder resulting from over 200 different mutations of beta globin genes. The aim of the present study was to identify the distribution and frequency of the most common β -thalassemia mutations among the population of Isfahan Province in central Iran. Methods: The data presented here were derived from a total of 114 β -thalassemia chromosomes of 18 affected patients and 78 unrelated carriers identified in our screening program. Furthermore, 23 pregnant women were analyzed among couples with a PND request for β -thalassemia. Allele identification was carried out using routine Reverse Dot Blot, ARMS, and genomic sequencing. Results: The most common mutation, IVS-II-I, followed by FSC-36-37, IVS-I-5, FSC-8-9, IVS-I-110, IVS-I,3end; -25bp, IVS-II-745, FSC-8, Cd-39, FSC-22-24, IVS-I-1, Cd-44, IVSII-2,3 (+11/-2), IVS-I-6, and FSC-16, respectively. The present study not only provides a guide for distribution and frequency of both recurrent and uncommon mutations, but also for the first time, reports a rare b-thalassemia mutation, IVSII-2, 3 (+11/-2), in the Isfahan province of Iran. Conclusion: The information presented here could greatly facilitate screening for β -thalassemia and prenatal diagnosis in the province of Isfahan

Mutation analysis of androgen receptor gene: Multiple uses for a single test

Androgen receptor gene mutations are one of the leading causes of disorders of sex development (DSD) exhibited by sexual ambiguity or sex reversal. In this study, 2 families with patients whom diagnosed clinically as androgen insensitivity syndrome (AIS) were physically and genetically examined. This evaluation carried out by cytogenetic and molecular analysis including karyotype and sequencing of SRY and AR genes. In family 1, two brothers and their mother were hemizygous and heterozygous respectively for c.2522G. >. A variant, while one of their healthy brother was a completely normal hemizygote. Family 2 assessment demonstrated the c.639G. >. A (rs6152) mutation in two siblings who were reared as girls. The SRY gene was intact in all of the study's participants.Our findings in family 1 could be a further proof for the pathogenicity of the c.2522G. >. A variant. Given the importance of AR mutations in development of problems such as sex assignment in AIS patients, definitive diagnosis and phenotype-genotype correlation could be achieved by molecular genetic tests that in turn could have promising impacts in clinical management and also in prenatal diagnosis of prospect offspring.In this regard, phenotype-genotype correlation could be helpful and achieved by molecular genetic tests. This could influence the clinical management of the patients as well as prenatal diagnosis for the prospective offspring. © 2014 Elsevier B.V