نتایج جستجو برای: multiplex ligation dependentprobe amplification

تعداد نتایج: 97340  

Alihossein Saberi, Gholamreza Shariati, Hamid Galehdari, Ladan Dawoody Nejad, Marziye Mohammadi-Anaei, Mohammad Hamid,

Background: β-thalassemia is one of the most widespread disease in the world, including Iran. In this study, we reported, for the first time, A 290-bp β-globin gene deletion in the south of Iran. Methods: Four individuals from three unrelated families with Arabic ethnic background were studied in Khuzestan Province. Red blood cell indices and hemoglobin analysis were carried out accor...

Journal: :Nucleic acids research 2002
Jan P Schouten Cathal J McElgunn Raymond Waaijer Danny Zwijnenburg Filip Diepvens Gerard Pals

We describe a new method for relative quantification of 40 different DNA sequences in an easy to perform reaction requiring only 20 ng of human DNA. Applications shown of this multiplex ligation-dependent probe amplification (MLPA) technique include the detection of exon deletions and duplications in the human BRCA1, MSH2 and MLH1 genes, detection of trisomies such as Down's syndrome, character...

Journal: :Journal of clinical microbiology 2014
Shuwen Deng G Sybren de Hoog Weihua Pan Min Chen A H G Gerrits van den Ende Liyue Yang Jiufeng Sun Mohammad Javad Najafzadeh Wanqing Liao Ruoyu Li

In this study, we developed rapid and sensitive assays for the detection of Cladophialophora carrionii, a common agent of human chromoblastomycosis. The isothermal techniques evaluated were rolling-circle amplification (RCA), multiplex ligation-dependent probe amplification (MLPA), and loop-mediated isothermal amplification (LAMP). The probes for RCA and MLPA were designed with target sequences...

2014
Zachary Wei Ern Yong Zuraiza Mohamad Zaini Thomas George Kallarakkal Lee Peng Karen-Ng Zainal Ariff Abdul Rahman Siti Mazlipah Ismail Noor Akmal Sharifah Wan Mahadzir Wan Mustafa Mannil Thomas Abraham Keng Kiong Tay Rosnah Binti Zain

The clinical relevance of DNA copy number alterations in chromosome 8 were investigated in oral cancers. The copy numbers of 30 selected genes in 33 OSCC patients were detected using the multiplex ligation-dependent probe amplification (MLPA) technique. Amplifications of the EIF3E gene were found in 27.3% of the patients, MYC in 18.2%, RECQL4 in 15.2% and MYBL1 in 12.1% of patients. The most fr...

2016
Kimia Ghaffari Mehrdad Hashemi Elmira Ebrahimi Reza Shirkoohi

BACKGROUND Baculoviral inhibitor of apoptosis repeat-containing 5 (BIRC5) gene is an inhibitor of apoptosis that expresses in human embryonic tissues but it is absent in most healthy adult tissues. The copy number of BIRC5 has been indicated to be highly increased in tumor tissues; however, its association with the age of onset in breast cancer is not well understood. METHODS Forty tumor tiss...

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