We have performed analyses of single-strand conformation polymorphisms (SSCP) of the promoter region and the translated parts of the 18 exons of the low-density lipoprotein receptor (LDLR) gene. DNA from 20 unrelated familial hypercholesterolemia (FH) patients was studied. Four different running conditions were used for the nondenaturing gel electrophoresis to systematically evaluate how differ...

Indirect molecular diagnosis of X linked hypohidrotic ectodermal dysplasia (XLHED), a congenital disorder of hair, teeth, and eccrine sweat glands, has been possible by linkage analysis. Direct mutation detection would enable carrier detection in female relatives of sporadic cases, as well as help distinguish XLHED from the rarer, clinically indistinguishable, autosomal recessive disorder ARHED...

CONTEXT Mutations of the p53 tumor suppressor gene are the most frequent alterations observed in human neoplasias affecting adults. In pediatric oncology, however, they have seldom been identified. Wilms' tumor is a renal neoplasia commonly occurring in children and is associated with mutations of the WT1 gene. The correlation between Wilms' tumor and alterations of the p53 gene has not been we...

Subspecific typing of clinical meningococcal strains is important in the investigation of outbreaks and for disease surveillance. Serogrouping, typing, and subtyping of strains currently require isolation of a meningococcus from one or more clinical specimens. However, the increasing widespread practice of preadmission administration of parenteral antibiotics has resulted in a decrease in the f...

DNA polymorphism within diacylglycerol transferase 2 (DGAT2) / monoacyl glycerol transferases 2 (MOGAT2), leptin and butyrophilin genes were analysed using PCR-SSCP in Murrah buffalo. The single strand conformation polymorphism (SSCP) analysis of amplified gene fragment in exon 5 of MOGAT2, exon 3 of leptin and intron 1 of butyrophilin gene revealed different patterns. A, B and C showed the fol...

We describe a new method for studying the structure and diversity of bacterial communities in the natural ecosystem. Our approach is based on single-strand-conformation polymorphism (SSCP) analysis of PCR products of 16S rRNA genes from complex bacterial populations. A pair of eubacterial universal primers for amplification of the variable V3 region were designed from the 16S rRNA sequences of ...

BACKGROUND Trichomonas vaginalis is the agent of urogenital tract infection that causes human trichomoniasis with some serious health complications. More understanding about genetic features of the parasite can be helpful in the study of the pathogenesis, drug susceptibility and epidemiology of the infection. For this end, we conducted analysis of the actin gene of T. vaginalis by applying the ...