ABSTRACT
Olfaction is one of the basic feelings,which plays an important role in appetite,warning of danger and emotion regulation,etc.More and more studies have shown that olfactory dysfunction may affect quality of human life.Thus,the attention of olfactory dysfunction is increasing.There are many subjective and objective methods for olfactory function detection,and olfactory event-related potential (OERP) is a more objective method.This article reviews the development,testing and analysing methods and clinical research of OERP,and explores its application prospects in forensic clinical medicine.
ABSTRACT
<p><b>OBJECTIVE</b>To detect mutations in the ED1 gene in two Chinese pedigrees and a sporadic case with X-linked hypohidrotic ectodermal dysplasia (XLHED) and provide evidences with the mutation analysis for genetic counseling, prenatal diagnosis and confirmation of carrier status.</p><p><b>METHODS</b>Peripheral blood samples were obtained from two pedigrees and the sporadic patient, and genomic DNA was extract by salting out method. Polymerase chain reaction (PCR) and direct sequencing were performed to screen mutations in ED1 gene.</p><p><b>RESULTS</b>Three mutations were identified. In one of the pedigrees, a 1045G > A transition was evidenced in exon 9 that resulted in a change of Ala 349 Thr. In the other pedigrees and the sporadic patient, 467G > A and 466C > T transitions were demonstrated in exon 3 that resulted in change of Arg 156 His and Arg 156 Cys. These mutations were not found in 100 normal individuals.</p><p><b>CONCLUSIONS</b>These mutations were responsible for the disease in the two families and the sporadic patient. All these mutations had been identified previously.</p>
Subject(s)
Child , Humans , Male , DNA Mutational Analysis , Ectodermal Dysplasia 1, Anhidrotic , Genetics , Ectodysplasins , Genetics , Mutation, Missense , PedigreeABSTRACT
<p><b>OBJECTIVE</b>To test the salivary immunoglobulin A antibody activity to Streptococcus mutans in normal with in acid environment.</p><p><b>METHODS</b>Streptococcus mutans strains were isolated from 20 volunteers, serotyped by biochemical test and PCR, and genotyped by AP-PCR. Unstimulated secretions from submandibular glands and sublingual glands were collected from volunteers by modified collectors. Each identified Streptococcus mutans genotype was cultured in two groups: control group was cultured in BHI broth pH7.2 at 37 degrees C for 2 h; acid shock group were cultured in TYEG broth (pH5.5) at 37 degrees C for 2 h. Analysis of SIgA activity to Streptococcus mutans genotypes in different groups was detected by Western blot.</p><p><b>RESULTS</b>(1) The SIgA of each individual could response to his own Streptococcus mutans strains and the reference strains; (2) The same individual had different SIgA activity to different genotype strains; (3) There were no significant difference between acid groups and control groups, in spite that some bands had strong or weak intensity.</p><p><b>CONCLUSIONS</b>Although Streptococcus mutans could express acid shock proteins in stress, the present study suggests that these new proteins have no qualitative effect on the reaction of SIgA to Streptococcus mutans.</p>