Youl Hee Cho

Association Study of Dopamine Receptor D2TaqI A Polymorphism and Reward-Related Personality Traits in Healthy Korean Young Females

Background: Genetic factors make a significant contribution to the determination of human personality traits. We aimed to investigate the possible relationship between dopamine receptor D2 (DRD2) TaqI A polymorphism and the reward-related personality traits as measured by the Carver and White Behavioral Inhibition System/Behavioral Approach System (BIS/BAS) scales and Cloninger’s Temperament and Character Inventory (TCI). Methods: The sample consisted of 267 female healthy Korean unrelated university students (age: 23.12 ± 3.22 years) and they filled out the BIS/BAS scales and the TCI. Genomic DNA was isolated from whole blood and genotyped with the fluorescence polarization detection method. The effect of the independent variables (DRD2 genotypes) on the dependent variables were analyzed by multivariate and subsequent univariate ANOVA. Results: We found significant associations between the A1 allele of the DRD2 TaqI A polymorphism and a high BAS-RR score (reward responsiveness). No significant association was observed between DRD2 polymorphisms and other factors of the BIS/BAS scales and TCI. Conclusion: These findings suggest the notion that DRD2 TaqI A polymorphism contributes to high reward sensitivity, which measures anticipation and positive response towards reward.

Human Papillomavirus Infection and TP53 Gene Mutation in Primary Cervical Carcinoma

Tumor specimens obtained from 136 patients with primary carcinoma of the uterine cervix were analyzed for the presence of human papillomavirus (HPV) sequences and for mutation of the TP53 gene. Polymerase chain reaction (PCR) showed that 130 of 136 (96%) tumors contained an oncogenic HPV 16 or 18 sequence. HPV 16 was the predominant type in cervical squamous cell carcinomas and HPV 18 was significantly associated with cervical adenocarcinomas (p < 0.05). The more dedifferentiated the primary tumor, the more frequent the HPV 16 infection and the more differentiated, the more frequent the HPV 18 infection (p < 0.05). Two out of 136 (1.5%) tumors demonstrated single-strand conformation polymorphism (SSCP) band shifts. One (positive for HPV 18) had a nonsense mutation of codon 101 in exon 4 from AAA to TAA transversion. Another (positive for L1 consensus primer set) showed a point mutation involving codon 179 in exon 5 changing CAT to CGT transition. The three specimens negative for HPV did not contain TP53 gene mutations. Our data show that mutation of TP53 is infrequent in primary cervical carcinoma and there is no inverse correlation between HPV infection and TP53 gene mutation. Other mechanisms independent of TP53 inactivation may also be implicated in tumorigenesis of the uterine cervix.

Molecular cytogenetic analysis of the monoblastic cell line U937: karyotype clarification by G-banding, whole chromosome painting, microdissection and reverse painting, and comparative genomic hybridization

Previous reports on the analysis of the human monoblastic cell line U937 had described several sublines containing unidentified rearrangements and marker chromosomes. In order to determine the true nature of the rearrangements, conventional banding analysis was carried out with various combinations of molecular cytogenetic techniques: comparative genomic hybridization, fluorescence in situ hybridization (FISH) with whole chromosome painting probes, and microdissection and reverse painting FISH. The origins of the marker chromosomes were identified and the composite karyotype is described.

Delineation of Subtelomeric Deletion of the Long Arm of Chromosome 6

Pure subtelomeric deletion of the long arm of chromosome 6 is rare. The frequency of this deletion accounts for approximately 0.05% of subjects with intellectual disability and developmental delay with or without dysmorphic features. Common phenotypes associated with this deletion include intellectual disability, developmental delay, dysmorphic features, seizure, hypotonia, microcephaly and hypoplasia of the corpus callosum. The smallest overlapped region is approximately 0.4 Mb, and contains three known genes. Of these genes, TBP has been considered as a plausible candidate gene for the phenotype in patients with a subtelomeric 6q deletion. Analysis of the breakpoints in 14 cases revealed a potential common breakpoint interval 8.0–9.0 Mb from the chromosome 6q terminus where the FRA6E fragile site exists and the PARK2 gene is located. This suggests that breakage at the FRA6E fragile site may be the mechanism behind chromosome 6q subtelomeric deletion in some of the cases.