TITLE

Myocilin Mutations Are Not a Major Cause of Primary Congenital Glaucoma in Iranian Patients

AUTHOR(S)
Elahi, Elahe; Narooie-Nejhad, Mehrnaz; Suri, Fatemeh; Yazdani, Shahin
PUB. DATE
April 2010
SOURCE
Journal of Ophthalmic & Vision Research;Apr2010, Vol. 5 Issue 2, p101
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Purpose: To assess the frequency of mutations in the Myocilin (MYOC) gene in Iranian patients affected with primary congenital glaucoma (PCG). Methods: The individuals evaluated herein are among a larger cohort of 100 patients who had previously been screened for CYP1B1 mutations. Eighty subjects carried mutations in CYP1B1, but the remaining 20 patients who did not, underwent screening for MYOC mutations for the purpose of the study. MYOC exons in the DNA were polymerase chain reaction (PCR) amplified and sequenced. Sequencing was performed using PCR primers, the ABI big dye chemistry and an ABI3730XL instrument. Sequences were analyzed by comparing them to reference MYOC sequences using the Sequencher software. Results: Four MYOC sequence variations were observed among the patients, but none of them were considered to be associated with disease status. Three of these variations were single nucleotide polymorphisms already reported not to be disease causing, the fourth variation created a synonymous codon and did not affect any amino acid change. Conclusion: In this cohort, MYOC mutations were not observed in any Iranian subject with PCG. It is possible that in a larger sample, a few subjects carrying disease causing MYOC mutations could have been observed. But our results show that the contribution of MYOC to PCG status in Iran is small if any.
ACCESSION #
52364910

 

Related Articles

  • Investigation of Polymorphisms on ABCG2, AA-NAT and FABP3 Genes in the Kıvırcık Sheep Reared in Three Different Provinces of Turkey. ÖNER, Yasemin; ORMAN, Abdulkadir; ÜSTÜNER, Hakan; YILMAZ, Alper // Kafkas Universitesi Veteriner Fakultesi Dergisi;Sep/Oct2014, Vol. 20 Issue 5, p649 

    In this study mutations located in intron 5 of ABCG2, exon 3 of AA-NAT and exon 2 of FAB3 genes were investigated by PCR based methods in the Kıvırcık sheep sampled from Bursa, Manisa, and istanbul provinces of Turkey. All loci investigated were found as polymorphic. While in the ABCG2...

  • EVALUATION OF SIX CAMEL BREEDS FOR HETEROZYGOCITY THROUGH RESTRICTION FRAGMENT LENGTH POLYMORPHISM. Shah, M. G.; Reissmann, M.; Qureshi, A. S.; Schwartz, H. J. // Pakistan Veterinary Journal;2009, Vol. 29 Issue 4, p13 

    In the camel tyrosinase gene, a restriction site provoked by the T variant was used in a special restriction fragment length polymorphism analysis (PCR-RFLP) for genotyping of animals from six different Pakistani camel breeds (Marecha, Dhatti, Larri, Kohi, Campbelpuri and Sakrai). For this...

  • ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy. Jiang Y; Matsuo T; Fujiwara H; Hasebe S; Ohtsuki H; Yasuda T // British Journal of Ophthalmology;Feb2004, Vol. 88 Issue 2, p263 

    Aim: To identify ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy and to find the relation between the ARIX gene and congenital superior oblique muscle palsy. METHODS: The three exons of the ARIX gene were sequenced by genomic DNA amplification with polymerase...

  • Genetic Variation of MSP-1 Gene in Plasmodium vivax Isolated from Patients in Hormozgan Province, Iran using SSCP-PCR. Miahipour, A.; Keshavarz, H.; Heidari, A.; Raeisi, A.; Rezaeian, M.; Rezaie, S. // Iranian Journal of Parasitology;2012, Vol. 7 Issue 4, p1 

    Background: The main goal of present study was to detect polymorphism in MSP-1 gene which is a major blood stage candidate for vaccine in Plasmodium vivax by Single Strand Conformational Polymorphism- Polymerase Chain Reaction (SSCP-PCR). Methods: During 2008 to 2010 fifty samples were collected...

  • Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria. Qi Liu; Zhen Wang; Yuhong Wu; Lihua Cao; Qingzhu Tang; Xuesha Xing; Hongwei Ma; Shifa Zhang; Yang Luo // BMC Medical Genetics;2014, Vol. 15 Issue 1, p1 

    Background Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominantly inherited skin disease associated with mutations of ADAR1, the gene that encodes a double-stranded RNAspecific adenosine deaminase. The purpose of this study was to investigate the potential mutations in ADAR1 in...

  • Investigation of the association between 677C>T and 1298A>C 5,10-methylenetetra- hydrofolate reductase gene polymorphisms and normal-tension glaucoma. Woo, S. J.; Kim, J. Y.; Kim, D. M.; Park, S. S.; Ko, H. S.; Yoo, T. // Eye;Jan2009, Vol. 23 Issue 1, p17 

    PurposeHomozygous polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and resultant hyperhomocysteinaemia have been established as an independent risk factor for vascular diseases. There are evidences that vascular abnormalities are involved in the pathogenesis and...

  • Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation. Bagnall, Richard D.; Roberts, Roland G.; Mirza, Muddassar M.; Torigoe, Toshihiko; Prescott, Natalie J.; Mathew, Christopher G. // European Journal of Human Genetics;May2008, Vol. 16 Issue 5, p619 

    CARD8 (TUCAN) is implicated in the regulation of apoptosis and inflammation, and is a positional and functional candidate gene for inflammatory bowel disease (IBD). Recent investigations have reported conflicting results of association between a CARD8 nonsynonymous SNP, rs2043211, and IBD. SNP...

  • Recurrent early pregnancy loss and endothelial nitric oxide synthase gene polymorphisms. Suryanarayana, Venkata; Rao, Lakshmi; Kanakavalli, Murthy; Padmalatha, Venkata; Deenadayal, Mamata; Singh, Lalji // Archives of Gynecology & Obstetrics;May2006, Vol. 274 Issue 2, p119 

    Objective(s): Studies on the relation between endothelial nitric oxide synthase (eNOS) activity in implantation and maintenance of pregnancy highlights the importance of eNOS gene polymorphisms in recurrent early pregnancy loss (REPL). We investigated the relationship between idiopathic REPL and...

  • The Influence of Dopamine Receptor D4 Polymorphism on Resting EEG in Healthy Young Females. Tien-Wen Lee; Younger W.-Y. Yu; Chen-Jee Hong; Shih-Jen Tsai; Hung-Chi Wu; Tai-Jui Chen // Open Neuroimaging Journal;2012, Vol. 6, p19 

    The polymorphism of variable number of tandem repeat (VNTR) in dopamine receptor D4 (DRD4) gene exon III has been linked to various neuro-psychiatric conditions with disinhibition/impulsivity as one of the core features. This study examined the modulatory effects of long-allele variant of DRD4...

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics