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Showing 6 results for Omrani

Mir Davood Omrani, Agneta Nordenskhold,
Volume 3, Issue 1 (7-2005)

Background: For screening sequence variations in genes, rapid turnover time is of fundamental importance. While, many of the current methods are unfortunately time consuming and technically difficult to implement. Denaturing high-performance liquid chromatography (DHPLC) method had been shown to be a high-throughput, time saving, and economical tool for mutation screening. Objective: In the present study DHPLC method was used to explore the potential association between estrogen receptor ? gene (ESR2) variants and male infertility. Materials and Methods: DNA from 96 men with infertility and 96 normal male as control were screened for mutation in the nine exons of the ESR2 gene, using WAVE� DHPLC device equipped with a DNA separation column and automated sequence analysis on the ABI Prism 310. Results: DHPLC evaluation of ESR2 gene in 96 infertile patients, revealed one heterozygous sequence variation (IVS 8�4G>A) near the 5� splicing region of intron 8 in 5 patients. No variation was identified in control population. Conclusion: Mutation detection by DHPLC, as it is presented in this context, is a high-throughput, quick, and economical tool for mutation screening. The gene alterations in ESR2 gene that we�ve found might increase susceptibility to infertility; but without cDNA screening, the consequences of these genetic alterations cannot be predicted
Mir Davood Omrani,
Volume 4, Issue 1 (7-2006)

Mutations of the androgen receptor (AR) gene give rise to a wide array of phenotypic abnormalities. Various mutations of the AR gene and expanded polyglutamine repeats (CAG) at exon 1 of the gene have been reported in patients with infertility and neurodegenerative diseases. However, the role of the AR gene trinucleotides repeats has not been systemically studied in those with hypospadias or genital ambiguity. In this study it was tried to find out the potential association between these repeats and sexual development in a family consisted of 10 persons including one girl with primary amenorrhea and two boys with severe hypospadias. Mother was heterozygote for both CAG and GGN repeats. All affected children inherited the longer CAG and GGN repeat from their mother and all their healthy siblings inherited shorter CAG and GGN repeat. Only one girl had heterozygous situation like her mother. Our results indicated that disease locus is in linkage disequilibrium with the CAG and GGN trinucleotide repeats in the AR gene.
Mir Davood Omrani, Javad Karimzad Hagh, Wolfrom Klein, Jurgen Gebauer,
Volume 6, Issue 3 (7-2008)

Background: Cytogenetic analysis, Y-chromosome microdeletion screening, FISH techniques and other genetic methods have helped in finding the causes of infertility in azoospermic or severe oligoazoospermic cases in the last decade.
Objective: In the present study, we characterized an abnormal Y-chromosome, detected as a mosaic in an azoospermic male ascertained for infertility. Materials and Methods: Chromosome analysis, using G, Q and C banding techniques and FISH analyses with several different DNA probes specific for Y and X chromosome sequences [XY centromeric α-satellite, Y non-α-satellite III, LSI-probes of the Y chromosome, WCP of Chromosome Y, SRY gene, subtelomeric Xp and Yp, which cover the SHOX (short stature-homeobox containing) gene, and subtelomeric Xq and Yq probes] were performed. A total of 20 sequence tagged sites were analyzed using primer sets specific for the Y-chromosome microdeletion loci. The primers were chosen to cover AZFa, AZFb, and AZFc regions as well as the SRY gene.
Results: Chromosome analysis revealed a gonosomal mosaicism of monosomy X (51%) and a pseudodicentric Y (49%) chromosome: mos 45, X/46,X psu dic (Y) (qter→p11.32 :: p11.2→qter). Molecular genetic studies did not show deletions in the AZFabc regions, but a deletion was found in the short arms of the dicentric Y chromosome. One of the SRY genes was also missing.
Conclusion: The azoospermia in this patient could be explained by either the presence of an abnormal Y-chromosome that cannot form a sex vesicle (which appears to be necessary for the completion of meiosis process and the formation of sperm), or the presence of the 45, X cell line.
Nasim Borhani, Marefat Ghaffari Novin, Mehdi Manoochehri, Mohsen Rouzrokh, Bahram Kazemi, Ameneh Koochaki, Ahmad Hosseini, Reza Masteri Farahani, Mir Davood Omrani,
Volume 12, Issue 3 (4-2014)

Background: Hypospadias is one of the most common congenital abnormalities in the male which is characterized by altered development of urethra, foreskin and ventral surface of the penis. Androgen receptor gene plays a critical role in the development of the male genital system by mediating the androgens effects.
Objective: In present study, we looked for new variations in androgen receptor promoter and screened its exon 1 for five single nucleotide polymorphisms (SNP) in healthy and hypospadias Iranian men.
Materials and Methods: In our study, at first DNA was extracted from patients (n=100) and controls (n=100) blood samples. Desired fragments of promoter and exon 1 were amplified using polymerase chain reaction. The promoter region was sequenced for the new variation and exone 1 screened for five SNPs (rs139767835, rs78686797, rs62636528, rs62636529, rs145326748) using restriction fragment length polymorphism technique.
Results: The results showed a new single nucleotide variation (C→T) at -480 of two patients’ promoter region (2%). None of the mentioned SNPs were detected in patients and controls groups (0%).
Conclusion: This finding indicates that new single nucleotide polymorphism in androgen receptor promoter may have role in etiology of hypospadias and development of this anomaly.
Mir Davood Omrani, Faezeh Azizi, Masoumeh Rajabibazl, Niloufar Safavi Naini, Sara Omrani, Arezo Mona Abbasi, Soraya Saleh Gargari,
Volume 12, Issue 4 (5-2014)

Background: The major aneuploidies that are diagnosed prenatally involve the autosomal chromosomes 13, 18, and 21, as well as sex chromosomes, X and Y. Because multiplex ligation-dependent probe amplification (MLPA) is rapid and non-invasive, it has replaced traditional culture methods for the screening and diagnosis of common aneuploidies in some countries.
Objective:  To evaluate the sensitivity and specificity of MLPA in a cross-sectional descriptive study for the detection of chromosomal aneuploidies in comparison to other methods.
Materials and Methods:  Genomic DNA was extracted from the peripheral blood samples of 10 normal controls and the amniotic fluid of 55 patients. Aneuploidies screening of chromosomes 13, 18, 21, X and Y were carried out using specific MLPA probe mixes (P095-A2). For comparison purposes, samples were also tested by Quantitative Fluorescent-PCR (QF-PCR) and routine chromosomal culture method.
Results:  Using this specific MLPA technique and data-analyzing software (Genemarker v1.85), one case was diagnosed with 45, X (e.g. Monosomy X or Turner’s Syndrome), and the remaining 54 cases revealed normal karyotypes. These results were concordant with routine chromosomal culture and QF-PCR findings.
Conclusion:  The experiment demonstrates that MLPA can provide a rapid and accurate clinical method for prenatal identification of common chromosomal aneuploidies with 100% sensitivity and 100% specificity.
Soraya Saleh Gargari, Faezeh Azizi, Nasrin Saleh, Mir Davood Omrani,
Volume 15, Issue 3 (5-2017)

Background: Ambiguous genitalia is an uncommon situation that happensbetween 1 and 2 per every 1000 live births and falls under the umbrella diagnosisof disorders of sexual development.
Case: In this article, we report a case of male pseudohermaphroditism withambiguous genitalia. The proband was a 12 yr old girl without any uterus orovarian tissues. Karyotype of the case is 46, XY. Genes involved in sexualdifferentiation such as AR, SRD5A2, LH, LHR, FSH, 17 B HSD and SRY geneswere sequenced in both directions. No mutations were found in these geneseither.
Conclusion: It seems advisable to be cautious in similar cases, and reviseprotocol for tracing the genes involved in the patients.

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