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Zeinali S.,Kawsar Human Genetics Research Center | Zeinali S.,Pasteur Institute of Iran | Tavakol Z.K.,Islamic Azad University at Tehran | Kianfar S.,Kawsar Human Genetics Research Center | And 4 more authors.
Journal of Proteomics and Bioinformatics | Year: 2012

Objective: Determination of parents to avoid giving birth to a child with any anomalies has increased the demand for prenatal diagnosis. Two most important criteria of any prenatal diagnosis procedure are accuracy, and speed. They have to minimize burden and anxiety for families. One of the main tests requested during pregnancies is testing for chromosomal abnormalities. This study was carried out with the aim of investigating the use of a rapid diagnosis test for detecting chromosomal numerical aneuploidy in blood and fetal samples, and also to compare the outcomes with cytogenetic method. Materials and methods: In this study, 100 samples from high risk pregnancies or affected individuals, comprising 12 chorionic villi (CV), 43 amniotic fluids (AF) and 45 blood samples were analyzed by QF-PCR. The samples were amplified using the specific microsatellite markers (STRs) for chromosomes X, Y, 13, 18 and 21. The sample analysis was performed based on the peak type of the PCR products, and the results were compared with the cytogenetic findings. Results: In total 26 samples were normal and 74 were diagnosed as aneuploids. Eight sex chromosome aberrations (three 45, X; three 47, XXY; one 47, XXX and one 46, XY (female phenotype), 65 numerical aberrations of X, Y, 13, 18 and 21 chromosomes and one triploidy were recognized. The QF-PCR data were compared with the karyotype results and showed complete concordance. Conclusion: This study showed that QF-PCR method is definitely superior, due to its advantages and few drawbacks in diagnosis of numerical chromosomal aberrations. Low costs and high speed of analysis as well as its automaticity are among the most important advantages of this method. Considering more than 99.4% accuracy of the QF-PCR method (compared with cytogenetics) and the time required to do cytogenetic analysis, QF-PCR is the method of choice for aneuploidy testing. © 2012 Zeinali S, et al. Source


Behjati F.,University of Social Welfare and Rehabilitation Sciences | Firouzabadi S.G.,University of Social Welfare and Rehabilitation Sciences | Kahrizi K.,University of Social Welfare and Rehabilitation Sciences | Kariminejad R.,Kariminejad and Najmabadi Pathology and Genetics Center | And 11 more authors.
Archives of Medical Science | Year: 2011

Introduction: Mental retardation (MR) has heterogeneous aetiology mostly with genetic causes. Chromosomal aberrations are one of the most common causes of MR. Reports on chromosome abnormality rate among consanguineous families are sparse. In order to identify the chromosome abnormality rate in idiopathic mental retardation from consanguineous marriages, a total of 322 Iranian families with positive family history for MR were investigated in the Genetics Research Center. Material and methods: In the majority of families (92%) at least two sibs were affected with MR and none had specific chromosomal syndromes such as Down syndrome. Standard cytogenetic techniques using high resolution GTG banding were carried out on all the patients. Results: The overall chromosome abnormality rate contributing to mental retardation was 1.24% (4 cases), which comprised 46,XY,der(18)t(4;18)(q31.1;q23)mat; 45,XY,-21,-22, +der(22)t(21;22)(q21.1;q13.33)mat; 46,XY,rec(2)dup(2p)inv(2)(p25.1q37.3)pat, and 46,XY,der(11)t(10;11)(q25.2;q25)pat. Conclusions: Although the most likely genetic cause of mental retardation in patients with consanguineous parents is autosomal recessive, the fact that 1.24% of our patients had chromosomal abnormalities emphasizes the importance of cytogenetic investigation as the first laboratory genetic tests for all MR patients. To our knowledge, this is the first report on the rate of chromosome abnormality among patients with idiopathic mental retardation from consanguineous marriages. Copyright © 2011 Termedia & Banach. Source


Neishabury M.,University of Social Welfare and Rehabilitation Sciences | Zamani S.,University of Social Welfare and Rehabilitation Sciences | Abedini S.S.,University of Social Welfare and Rehabilitation Sciences | Darvish H.,University of Social Welfare and Rehabilitation Sciences | And 3 more authors.
Blood Cells, Molecules, and Diseases | Year: 2012

The core sequence of 5'HS4-beta globin locus control region and Xmn1-HBG2 site were analyzed and compared among 86 thalassemia patients with homozygous or compound heterozygous beta globin gene mutations and 101 normal individuals. Frequency of the G allele in the polymorphic palindromic sequence of 5'HS4 (TGGGG A/G CCCCA) and positive Xmn1-HBG2 profile was significantly higher in thalassemia patients compared to the normal population. Linkage disequilibrium was observed between the G allele and positive Xmn1-HBG2 profile in patient population. Furthermore, dominance of IVSII. -1 in the mutation spectrum of the patients enabled us to identify linkage disequilibrium relationships between IVSII-1. , positive Xmn1-HBG2 and the G allele at 5'HS4. The frequency of milder clinical phenotype was significantly higher in patients with GG/++ than cases with AA/-- genotypic pattern in 5'HS4/Xmn1-HBG2 loci. These data together with biochemical evidence suggesting a role for the A/G polymorphism at 5'HS4 palindromic site on modifying chromatin structure and in the absence of any evidence from functional studies relating the Xmn1-HBG2 site to the increased gamma chain expression, suggest that the phenotype modifying role long time assigned to Xmn1-HBG2 is possibly played by more functionally potent elements linked to it in LCR. © 2011 Elsevier Inc. Source


Neishabury M.,University of Social Welfare and Rehabilitation Sciences | Oberkanins C.,ViennaLab Diagnostics GmbH | Abedini S.S.,University of Social Welfare and Rehabilitation Sciences | Zamani S.,University of Social Welfare and Rehabilitation Sciences | And 2 more authors.
Blood Cells, Molecules, and Diseases | Year: 2011

Our data on 114 Iranian individuals with thalassemia intermedia phenotype revealed homozygous or compound heterozygous beta-globin mutations to be the predominant disease factor in 86.2% of cases. However, 8.2% of these individuals were found to be heterozygous or wild type for beta-globin mutations. In search for determinants outside of the beta-globin gene, which could be responsible for the unexpected thalassemia intermedia phenotype in these subjects, we screened the alpha-globin genes, the 5'HS3 and 5'HS4 regions of the beta-globin LCR, and the NF-E2 transcription factor for sequence variations in selected individuals. The -3.7 deletion was the only alpha-globin mutation detected, and no alterations were found in 5'HS3 and NF-E2. Sequence analysis of the 5'HS4 LCR core region identified three known SNPs in a single patient, who required irregular blood transfusions. The A/G polymorphism in the 5'HS4 palindromic region was also observed to be variable. Family studies were carried out on a female G/G homozygous patient, who received irregular blood transfusions. Her father, who had the same heterozygous IVSII-1 beta-globin mutation but the A/G genotype at the 5'HS4 palindromic site, presented with mild anemia and no requirement for blood transfusions. This suggests an impact of SNPs in the 5'HS4 LCR core region on the thalassemia phenotype and offers an interesting subject for further investigations in the Iranian population. © 2010 Elsevier Inc. Source


Behjati F.,University of Social Welfare and Rehabilitation Sciences | Firouzabadi S.G.,University of Social Welfare and Rehabilitation Sciences | Kariminejad R.,Kariminejad and Najmabadi Pathology and Genetics Center | Vameghi R.,University of Social Welfare and Rehabilitation Sciences | And 7 more authors.
Indian Journal of Human Genetics | Year: 2013

Background: Mental retardation (MR) has a prevalence of 1-3% and genetic causes are present in more than 50% of patients. Chromosomal abnormalities are one of the most common genetic causes of MR and are responsible for 4-28% of mental retardation. However, the smallest loss or gain of material visible by standard cytogenetic is about 4 Mb and for smaller abnormalities, molecular cytogenetic techniques such as array comparative genomic hybridization (array CGH) should be used. It has been shown that 15-25% of idiopathic MR (IMR) has submicroscopic rearrangements detectable by array CGH. In this project, the genomic abnormalities were investigated in 32 MR patients using this technique. Materials and Methods: Patients with IMR with dysmorphism were investigated in this study. Karyotype analysis, fragile X and metabolic tests were first carried out on the patients. The copy number variation was then assessed in a total of 32 patients with normal results for the mentioned tests using whole genome oligo array CGH. Multiple ligation probe amplification was carried out as a confirmation test. Results: In total, 19% of the patients showed genomic abnormalities. This is reduced to 12.5% once the two patients with abnormal karyotypes (upon re-evaluation) are removed. Conclusion: The array CGH technique increased the detection rate of genomic imbalances in our patients by 12.5%. It is an accurate and reliable method for the determination of genomic imbalances in patients with IMR and dysmorphism. Source

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