Prevalence and Genotype of Human Papillomavirus Infection and Risk of Cervical Dysplasia among Asymptomatic Korean Women / 대한임상미생물학회지

BACKGROUND: The persistence of infection by high-risk human papillomavirus (HPV) may lead to cervical cancer. Recently, the American Society for Colposcopy and Cervical Pathology (ASCCP) announced that oncogenic HPV screening and the PAP smear are the main methods of screening for cervical cancer. The goal of this study was to investigate the prevalence and genotyping of HPV, as well as the risk of cervical dysplasia. METHODS: HPV genotyping was conducted by a commercial chip assay. Cervical dysplasia was retrospectively reviewed using electronic medical records. The study participants were grouped together according to cervical dysplasia status: 'no dysplasia,' 'atypical squamous cells of undetermined significance (ASCUS),' 'low-grade squamous intraepithelial lesion (LSIL),' and 'high-grade squamous intraepithelial lesion (HSIL).' The HPV prevalence and genotyping were analyzed according to the cervical dysplasia group. RESULTS: The overall prevalence of HPV was 17.6% (91 out of 518 patients). HPV-18 (2.3%), HPV-16 (2.1%), and HPV-58 (1.2%) were the three most frequent genotypes. The prevalence of HPV infection and the high-risk HPV positive rate was higher in the ASCUS, LSIL, and HSIL groups than in the no dysplasia group (P<0.05). CONCLUSION: In this study, basic data regarding the prevalence and distribution of HPV genotypes were obtained. Since HPV vaccination has been actively encouraged among Korean women, a change in the prevalence of HPV and cervical dysplasia is expected in the future. This study provided basic data describing the prevalence of HPV and its genotypes in the pre-HPV vaccination era.

Molecular and Clinical Characteristics of Myotonic Dystrophy Type 1 in Koreans / 대한진단검사의학회지

BACKGROUND: Myotonic dystrophy type 1 (DM1) is an autosomal-dominant muscular dystrophy caused by expansion of cytosine-thymine-guanine (CTG) trinucleotide repeats in the myotonic dystrophy protein kinase (DMPK) gene. The clinical features of DM1 are multisystemic and highly variable, and the unstable nature of CTG expansion causes wide genotypic and phenotypic presentations. The aim of this study was to characterize the molecular and clinical spectra of DM1 in Koreans. METHODS: The CTG repeats of 283 Korean individuals were tested by PCR fragment analysis and Southern blot. The following characteristics were assessed retrospectively: spectrum of CTG expansions, clinical findings, genotype-phenotype correlation, anticipation, and genetic instability. RESULTS: One-hundred twenty-four patients were confirmed as DM1 by molecular tests, and the CTG expansions ranged from 50 to 2,770 repeats (median 480 repeats). The most frequent clinical features were myotonia, muscular weakness, and family history. Patients with muscular weakness or dysfunction of the central nervous system harbored larger CTG expansions than those without each symptom (P<0.05). The age of onset was inversely correlated with the size of the CTG expansion (gamma=-0.422, P<0.001). The instability of CTG expansion representing as the maximum difference between sibships was observed from 50 to 700 repeats in nine families. Clinical anticipation and the increase in CTG repeat were significantly higher in maternally transmitted alleles (P=0.002). CONCLUSIONS: Molecular genetic tests are not only essential for diagnosis, but also helpful for suggesting the spectrum and relationship between genotype and phenotype in Korean DM1 patients.