Detection and identification of point mutations in genomic DNA has proven increasingly important in biomedical research. A variety of methods for the analysis of single base substitutions have been proposed among which Single Strand Conformational Polymorphism (SSCP) quickly gained success due to its simplicity. In this work we present an analytical on-line tool which combines the ease of solid...

Litter size is one of the most important economical traits in sheep breeding industry. In addition to minor genes, litter size is under the influence of major genes. Bone morphogenetic protein 15 (BMP-15), a member of the transforming growth factor beta (TGF-ß) superfamily, which is specifically expressed in oocytes, plays a dramatic role in sheep prolificacy. Reported mutations in this gene ca...

hearing loss (hl) is the most frequent sensory defect affecting 1 in 1000 neonates. this can occur due to genetic or environmental causes or both. the genetic causes are very heterogenous and over 100 loci have been identified to cause autosomal recessive non - syndromic hearing loss (arnshl). the aim of this study was to determine the contribution of the lrtomt gene mutations in causing arnshl...

the growth hormone receptor (ghr) is a member of cytokine/hematopoietin family that mediates the biological actions of growth hormone (gh) on target tissues. therefore, the purpose of this study was to examine the association of tg-repeat polymorphisms in the 5’-flanking region of bovine ghr gene with milk production traits and somatic cell score (scs) in holstein cattle of iran. the part of 5’...

Aptamers are specific binding nucleic acids that emerge from in vitro selection. During the systematic evolution of ligands by exponential enrichment (SELEX) procedure, analysis of the sequences of the numerous selected individual molecules becomes an important step in the final stage of aptamer selection. The sequencing of cloned aptamers from the selected pool generally reveals groups of iden...

OBJECTIVE To diagnose a Chinese benign familial neonatal convulsions (BFNC) family at the level of gene and investigate its molecular pathogenesis. METHODS All family members were studied by clinical examinations and linkage analysis. Mutation analysis of KCNQ2 gene was made by means of polymerase chain reaction (PCR)-direct sequencing and PCR-single strand conformation polymorphism (SSCP) in...

PURPOSE To characterize the clinical features of 14 Japanese patients with autosomal dominant retinitis pigmentosa (ADRP) who were found to have a mutation in the FSCN2 gene. METHODS Mutation screening by single-strand conformation polymorphism (SSCP) was performed in 120 unrelated patients with ADRP, 200 unrelated patients with autosomal recessive retinitis pigmentosa (ARRP), and 100 patient...

Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E1 alpha gene. We have developed a rapid screening method for the detection of mutations in this gene using reverse transcription of total RNA, polymerase chain reaction amplification of the whole coding region of the gene and single-strand conformation polymorphism (SSCP) analysis. With thi...

A total of 90 Flavobacterium columnare isolates were recovered from predominant wild fish species in the Mobile River, Alabama, USA. Isolates were identified and confirmed by fatty acid methyl ester analysis and specific PCR amplification. Genomovar ascription was performed using 16S-restriction fragment length polymorphism (RFLP) analysis. The majority of genomovar I isolates were recovered fr...