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کاربرد نوع شرط:
- جایگاه : پژوهشی
- مجله: Journal of Basic and Clinical Pathophysiology
- نوع مقاله: Journal Article
- کلمات کلیدی: Polymorphism,Multiple Sclerosis,Iranian,NEFL
- چکیده:
- چکیده انگلیسی: Background: Multiple sclerosis (MS) is a chronic disease characterized by inflammation and degeneration of the central nervous system (CNS). High levels of neurofilament light chain (NFL) and neurofilament heavy chain (NFH) in cerebrospinal fluid (CSF) have been associated with a wide range of neurological diseases including MS.
Subjects and Methods: Peripheral blood samples were collected from 40 relapsing remitting multiple sclerosis (RRMS) patients and 40 healthy control subjects to extract genomic DNA. Genotyping was performed by polymerase chain reaction (PCR) and sequencing technique. Genotypic and allelic distributions were compared between cases and controls. Logistic regression was used to estimate the risk of MS associated with selected SNP.
Results: The results of the present study revealed that there were significant differences in the distribution of neurofilament light gene (NEFL) genotypes and allele frequencies between Iranian RRMS patients and controls. In Iranian RRMS patients, there was a significant association between NEFL gene polymorphism rs2979687 and the risk of MS.
Conclusion: Our data indicate that there was a significant association between -374A>G NEFL gene polymorphism and risk of MS in Iranian patients. Probably, we can use it as a potential prognostic genetic marker. Further large prospective studies are required to confirm these findings.- انتشار مقاله: 23-02-1398
- نویسندگان: Shaghayegh Saffari,Seyed Mohsen Miresmaeili,Seyedeh Parisa Chavoshi Tarzjani,Shekoofe Alaie,Seyed Abolhassan Shahzadeh Fazeli
- مشاهده
- جایگاه : پژوهشی
- مجله: Asian Pacific Journal of Cancer Prevention
- نوع مقاله: Journal Article
- کلمات کلیدی: Breast cancer,Intronic Mutation,Haplotype
- چکیده:
- چکیده انگلیسی: Background: Breast cancer is the most common cancer diagnosed among women, Tumor suppressor genes such
as BRCA1 involved in cell cycle control and repairing of DNA damage. BRCA1 is a risk factor gene that alteration
in its protein cause in susceptibility to breast or ovarian cancer. Short tandem repeat (STR) polymorphism is linked to
some disease. Objective: The aim of this study was screening a new mutation in patients with familial breast cancer.
Materials and Methods: In this study, 200 women with breast cancer were participated. Among the patients, 40 women
suffer from familial breast cancer. After DNA extraction from peripheral blood samples, Exons 16 to 23 of BRCA1 gene
directly analyzed in SSCP gel electrophoresis followed by direct sequencing. Results: After direct sequencing, a new
mutation was detected in intron 17 of BRCA1 gene. Three patients of one family have a germ line intronic mutation in
the BRCA1 gene (IVS17-27delA). Also, this mutation in this family is linked to a haplotype of intragenic short tandem
repeat (STR) in the BRCA1 gene. Conclusion: By Screening of gene mutations can be found association of mutation
and incidence of disease. Also, studying the mutation in families and finding specific hereditary patterns in that family
can be effective in prognosis of disease in other family members.- انتشار مقاله: 20-06-1397
- نویسندگان: Seyed Mohsen Miresmaeili,Fatemeh Jafari
- مشاهده