نتایج جستجو برای: روش sscp

تعداد نتایج: 371414  

Journal: :Journal of medical genetics 1998
W K Lee L Haddad M J Macleod A M Dorrance D J Wilson D Gaffney M H Dominiczak C J Packard I N Day S E Humphries A F Dominiczak

Familial hypercholesterolaemia (FH) is an autosomal codominant disorder characterised by high levels of LDL cholesterol and a high incidence of coronary artery disease. Our aims were to track the low density lipoprotein receptor (LDLR) gene in individual families with phenotypic FH and to identify and characterise any mutations of the LDLR gene that may be common in the west of Scotland FH popu...

Journal: :Investigative ophthalmology & visual science 2000
A J Lotery F L Munier G A Fishman R G Weleber S G Jacobson L M Affatigato B E Nichols D F Schorderet V C Sheffield E M Stone

PURPOSE To assess the allelic variation of the VMD2 gene in patients with Best disease and age-related macular degeneration (AMD). METHODS Three hundred twenty-one AMD patients, 192 ethnically similar control subjects, 39 unrelated probands with familial Best disease, and 57 unrelated probands with the ophthalmoscopic findings of Best disease but no family history were screened for sequence v...

Journal: :Journal of clinical microbiology 2010
Hong-Bin Xu Rui-Hai Jiang Wei Sha Ling Li He-Ping Xiao

The reference standard methods for drug susceptibility testing of Mycobacterium tuberculosis, such as culture on Lowenstein-Jensen or Middlebrook 7H10/11 medium, are very slow to give results; and due to the emergence of multidrug-resistant M. tuberculosis and extensively drug-resistant M. tuberculosis, there is an urgent demand for new, rapid, and accurate drug susceptibility testing methods. ...

Journal: :Journal of medical genetics 1997
A Bobba A Iolascon S Giannattasio M Albrizio A Sinisi F Prisco F Schettini E Marra

The major cause of congenital adrenal hyperplasia (CAH), a common recessive genetic disease, is the deficiency of steroid 21-hydroxylase (21OH), a microsomal enzyme encoded by the CYP21 gene. Although several CAH causing mutations have been identified in the CYP21 gene of patients with 21OH deficiency, genotyping of the 21OH locus is quite complex because of the high frequency of gene conversio...

Journal: :Applied and environmental microbiology 2004
Marek K Sliwinski Robert M Goodman

To explore whether the crenarchaeal consortium found in the rhizosphere is distinct from the assemblage of crenarchaeotes inhabiting bulk soil, PCR-single-stranded-conformation polymorphism (PCR-SSCP) profiles were generated for 76 plant samples collected from native environments. Divergent terrestrial plant groups including bryophytes (mosses), lycopods (club mosses), pteridophytes (ferns), gy...

2016
Arun Pratap Singh K. P. Ramesha S. Isloor P. Divya Ashwani Arya

Lactoferrin is an iron binding glycoprotein which plays an essential role in antimicrobial defense and a potential candidate gene in dairy cattle breeding. The present study was undertaken with the objective of sequence characterization and identification of polymorphisms within exons 2, 3 and 14 and their flanking intronic regions in lactoferrin gene of Deoni (Bos indicus) cattle by single str...

Journal: :The Turkish journal of pediatrics 2003
Anil Apak Göknur Haliloğlu Gülşen Köse Engin Yilmaz Banu Anlar Sabiha Aysun

Tuberous sclerosis is an autosomal dominant multisystem disorder characterized by hamartomatous growths in different organs. Disease determining genes are localized to 9q34 (TSC1) and 16p13.3 (TSC2). Two-thirds of the cases are sporadic and result from new mutations. The aim of this study was to determine TSC2 gene mutations by Single Stranded Conformation Polymorphism (SSCP) analysis and direc...

Journal: :Genetics and molecular research : GMR 2002
Montse Bernat Esther Titos Joan Clària

We describe the application of two different fluorescence-based techniques (ddNTP primer extension and single-strand conformation polymorphism (SSCP)) to the detection of single nucleotide polymorphisms (SNPs) by capillary electrophoresis. The ddNTP primer extension technique is based on the extension, in the presence of fluorescence-labeled dideoxy nucleotides (ddNTP, terminators), of an unlab...

Journal: :Applied and environmental microbiology 2003
Markéta Derdáková Lorenza Beati Branislav Pet'ko Michal Stanko Durland Fish

In Europe the Borrelia burgdorferi sensu lato complex is represented by five distinct genospecies: Borrelia burgdorferi sensu stricto, Borrelia afzelii, Borrelia garinii, Borrelia valaisiana, and Borrelia lusitaniae. These taxonomic entities are known to differ in their specific associations with vertebrate hosts and to provoke distinct clinical manifestations in human patients. However, except...

2014
P K Dubey Sandeep Singh N K Yadav P Kathiravan B P Mishra

The present study was undertaken to delineate single nucleotide polymorphisms within exon 2 and its flanking regions of bubaline leptin gene using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis. A total of 118 buffaloes from seven different breeds were studied, revealing three distinct SSCP variants, viz., A, B and C, with a frequency of 0.703, 0.195 and 0...

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