The Relationship between Single Nucleotide Polymorphisms of the Carbonic Anhydrase 6 Gene andPhenylthiocarbamide Taste Sensitivity, Taste Disorder / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: The phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) taste sensitivity varies among individuals. Recently, it is reported that PROP taste responsiveness is associated with carbonic anhydrase 6 (CA6) gene polymorphism. The CA6 gene, a zinc metalloprotein in human saliva, is affected in taste function and might be correlated with gustatory diversity. The aim of this study was to examine whether PTC taste sensitivity and taste disorder is associated with the CA6 gene polymorphism rs2274327 (C/T), rs2274328 (A/C), and rs2274333 (A/G). SUBJECTS AND METHOD: A total of 217 healthy normal subjects were recruited as controls, and 50 taste disorder patients were recruited as experimental group. The polymorphisms of CA6 gene were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis. All statistical analyses were calculated using the statistical package for the social science software. Haplotypes were estimated by Haploveiw and the PHASE programs. RESULTS: The CA6 gene polymorphisms showed association with taste disorder but not with PTC sensitivity (taster/nontaster). The number of control subjects carrying AA genotype of single nucleotide polymorphism rs2274328 (A/C) in the CA6 gene was higher than the number of the subjects with taste disorder (p=0.048). However, there was no association between controls and taste disorder subjects in the haplotype analysis. CONCLUSION: These data suggest that the CA6 gene polymorphism rs2274328 could affect taste function impairment in patients with taste disorder. This observation requires a further functional study of gustin protein to clarify the association of the CA6 gene polymorphisms with the taste disorder and sensitivity.

A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome

Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural deafness with goiter (Pendred syndrome, OMIM 274600) or NSRD with goiter (at the DFNB4 locus, OMIM 600791). H723R (2168A>G) is the most commonly reported SLC26A4 mutations in Korean and Japanese and known as founder mutation. We recently experienced one patient with enlarged vestibular aqueduct syndrome. The genetic study showed H723R homozygous in the proband and H723R heterozygous mutation in his family members. The identification of a disease-causing mutation can be used to establish a genotypic diagnosis and provide important information to both families and their physicians.

A clinical study of results after operation using Tension-free vaginal tape / 대한산부인과학회잡지

OBJECTIVE: The purpose of the study was to evaluate the safety and efficacy of tension-free vaginal tape (TVT) placement for surgical treatment of stress urinary incontinence (SUI) in women. METHODS: A retrospective study of 38 cases with SUI underwent the TVT procedure underlying local anesthesia at Daedong and Sewoong Hospital from March 2000 to December 2000, followed up more than six months who included in the study. RESULT: Operation times ranged from 20 to 53 minutes with a mean of 37.5 minutes. The mean blood loss was 90 mL. One major complication was encountered -bladder perforation (2.5%) and urinary retention was developed in 4 cases (10.5%). Length of hospital stay ranged from 0.8 to 11.3 days with a mean of 1.8 days. On postoperative follow-up from 6.1 to 17.5 months, thirty-three patients (87%) were cured, four (10.5%) were significantly improved and one was failed (2.5%). CONCLUSION: Althouth the follow-up period was short, the TVT procedure seemed to be a safe and effective method for the treatment of stress urinary incontience.