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کاربرد نوع شرط:
- جایگاه : پژوهشی
- مجله: Iranian Journal of Basic Medical Sciences
- نوع مقاله: Journal Article
- کلمات کلیدی: Iran,Arrhythmia,Jervell and Lange-Nielsen syndrome,KCNQ1,Long-QT syndrome,Romano-Ward syndrome
- چکیده:
- چکیده انگلیسی: Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome.
Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient and the family members were screened for mutations in KCNQ1 gene by linkage analysis and DNA sequencing.
Results: DNA sequencing showed a c.1532_1534delG (p. A512Pfs*81) mutation in the KCNQ1 gene in homozygous form. The results of short tandem repeat (STR) markers showed that the disease in the family is linked to the KCNQ1 gene. The mutation was confirmed in the parents in heterozygous form.
Conclusion: This is the first report of this variant in KCNQ1 gene in an Iranian family. The data of this study could be used for early diagnosis of the condition in the family and genetic counseling.- انتشار مقاله: 17-02-1396
- نویسندگان: Azam Amirian,Seyed Mohammad Dalili,Zahra Zafari,Siamak Saber,Morteza Karimipour,Vahid Akbari,Amirfarjam Fazelifar,Sirous Zeinali
- مشاهده
- جایگاه : پژوهشی
- مجله: Iranian Journal of Biotechnology
- نوع مقاله: Journal Article
- کلمات کلیدی: Milk,Calcitonin,transgenic mice,Beta-lactoglobulin
- چکیده:
- چکیده انگلیسی: Expression of foreign proteins in mammalian milk is becoming a widespread strategy for high-level production
of recombinant pharmaceuticals, especially those with the most complex post-translational modifications.
A gene construct was generated, consisting of 10.7 kbp of the ovine beta-lactoglobulin (oBLG) gene
including its promoter and 3´ flanking region with the calcitonin coding sequences inserted in-frame into the
oBLG fifth exon. The gene construct was purified using CsCl gradient, released from vector, and gel-purified. It
was microinjected into fertilized mouse oocytes. These oocytes were then transferred to pseudo-pregnant foster mice. The pups born from foster mice were genotyped using PCR, slot blot, and Southern blot techniques. Among 9 mice which showed positive PCR results, only 6 mice transmitted the transgene to the
next generation. Therefore, 6 transgenic lines were established which stably transmitted their transgene to
their progeny.- انتشار مقاله: 11-04-1383
- نویسندگان: Ahmadreza Niavarani,Sirous Zeinali,Mohsen Karimi,Minoo Rassoulzadegan
- مشاهده
- جایگاه : پژوهشی
- مجله: Iranian Journal of Biotechnology
- نوع مقاله: Journal Article
- کلمات کلیدی: Mutation,SSCP,Hemophilia B,Carrier Testing
- چکیده:
- چکیده انگلیسی: Hemophilia B is an X-linked recessive bleeding disorder caused by heterogeneous mutations in factor IX
gene. In about one-third of cases it arises by a new mutation in germ-line cells. In this study carrier testing
was performed for females of a family with only one affected individual by single strand conformation polymorphism (SSCP). Results indicated that the SSCP band shift in the propositus was de novo and his mother and also sisters were not carrier. This finding was also confirmed by sequencing.
- انتشار مقاله: 13-01-1383
- نویسندگان: Morteza Karimipoor,Sirous Zeinali,Reza Safaee,Manijheh Lak,Nafiseh Nafissi
- مشاهده
- جایگاه : پژوهشی
- مجله: Asian Pacific Journal of Cancer Prevention
- نوع مقاله: Journal Article
- کلمات کلیدی: Childhood acute lymphoblastic leukemia (ALL),multiplex ligation-dependent probe amplification (MLPA),copy number alterations (CNA),PAX5,CDKN2A/B
- چکیده:
- چکیده انگلیسی: Objective: It was shown by genomic profiling that despite no detectable chromosomal abnormalities a proportion of children with pre-B acute lymphoblastic leukemia harbors copy number alterations (CNA) of genes playing role in B-cell development and function. The aim of the study was to determine the frequency of CNA in pediatric acute lymphoblastic leukemia and correlate these findings with clinical outcome. Methods: DNA extracted from peripheral blood or bone marrow at diagnosis/relapse of fifty newly diagnosed children with precursor B-cell acute lymphoblastic leukemia was analyzed for CNA with multiplex ligation-dependent probe amplification. Results: The analysis revealed 76 CNA in 24 patients most frequently found in PAR1 (17%), CDKN2A/B (15.7%) and PAX5 (14.4%) genes. There were significant CNA co-occurrences between PAX5, CDKN2A/B, BTG1, ETV6, PAR1 or XP22 genes, (p <0.020) and the high-risk group. There was a significant correlation between EBF1, RB1, and IKZF1 alterations and bone marrow relapse. Patients with CNA in screened genes are more likely to succumb to their disease except for those with PAR1 or XP22 genes (p <0.050). Conclusion: The multiplex ligation-dependent probe amplification could be considered as an independent diagnostic tool allowing prompt identification of patients at high risk of treatment failure and, subsequently, a more adequate treatment approach.
- انتشار مقاله: 26-01-1399
- نویسندگان: Abbasali Hosein Pour Feizi,Sirous Zeinali,Jacek Toporski,Roghayeh Sheervalilou,Sahar Mehranfar
- مشاهده