Bacteria ; genetics ; growth & development ; Biofilms ; Genetic Heterogeneity

No abstract available.
Genetic Heterogeneity ; Growth Hormone ; Noonan Syndrome

No abstract available.
Genetic Heterogeneity ; Mucocutaneous Lymph Node Syndrome

PURPOSE: The aim of the present study was to determine whether an association exists between UGT1A4 gene polymorphisms (P24T and L48V) and the occurrence of lamotrigine (LTG)-induced rash. METHODS: Ten patients with LTG-induced rash were examined for the P24T and L48V genetic polymorphisms. The results were compared with 42 epilepsy patients without LTG-induced rash and 143 non-exposure epilepsy patients. RESULTS: P24T polymorphism was not found; all studied subjects were homozygous for the 24P allele. Genetic heterogeneity of the L48V polymorphism existed, but the genetic proportions and allele frequencies of L48V polymorphism were not significantly different in the three groups of patients (p>0.05, by Fisher's Exact Test). CONCLUSION: The results of our study suggest that it is unlikely that the L48V polymorphism in the UGT1A4 gene is an important factor underlying LTG-induced rash development, especially in the absence of P24T polymorphism.
Alleles ; Epilepsy ; Exanthema* ; Gene Frequency ; Genetic Heterogeneity ; Humans ; Polymorphism, Genetic

BACKGROUND: Candida parapsilosis is an important nosocomial pathogen that can form biofilms (slime) on prosthetic material and cause catheter- related bloodstream infections. Genetic heterogeneity has been reported within clinical isolates of C. parapsilosis, but clinical significance of these different genotypes is not clear. We investigated random amplified polymorphic DNA (RAPD) genotypes of bloodstream isolates of C. parapsilosis and their relation to slime production. METHODS: Twenty-three bloodstream isolates and 20 strains from other sites were analyzed. For RAPD, five random 10-mer primers were used and the results were analyzed by the numerical taxonomy system and multivariate analysis system (NTSYS-pc). Slime production was evaluated by growing the organism in Sabouraud broth with 8% glucose and examining the walls of the tubes for the presence of an adherent slime layer. RESULTS: RAPD analysis separated 43 isolates of C. parapsilosis into four distinct genotypes. All 23 blood isolates belonged to type I, whereas the isolates from other sites consisted of type I (n=13), II (n=2), III (n=2) and IV (n=3). Eighty-three percent (19/23) of blood isolates were slime positive, whereas 50% (10/20) of isolates from other sites were slime positive. Slime positivity was observed in 81% (29/36) of type I isolates, in contrast to 0% (0/7) in all other types (types II~V). CONCLUSION: We suggest that C. parapsilosis isolates, which produce slime, are possibly of the same or similar RAPD type.
Biofilms ; Candida* ; Classification ; DNA* ; Genetic Heterogeneity ; Genotype ; Glucose ; Multivariate Analysis

OBJECTIVE: Examination of the changing pattern of cognitive function in old age. METHOD: Cross-sectional observation of MMSEK performances of the elderly living in a rural community. The mean and standard deviation, coefficient of variability, and 95% confidence interval and difference between the upper and lower limits by the 5-year age interval were employed as indicators of the change. RESULTS: Characteristics of the change of the MMSEK score by age were (1) overall decline and (2) widening of variance in terms of the standard deviation, coefficient of variability and difference between upper and lower limits of the 95% confidence interval. CONCLUSION: The changing pattern of cognitive function with age in the elderly is decline with 'fan-spread' shape. Heterogeneity, genetic effect on cognitive function in the old age, cerebral reserve gained before the old age, and different extent of physical activities might suggest some explanation for the phenomena.
Aged* ; Cognition ; Dementia ; Genetic Heterogeneity ; Humans ; Motor Activity ; Rural Population

Genetic Heterogeneity ; Hepacivirus ; genetics ; Hepatitis C ; virology ; Humans ; Replicon ; genetics

Autism is a group of etiology and clinical heterogeneous neurodevelopmental disorders with an onset before 3 years old. It has 3 core characteristics: deficits in verbal communication; impairment of social interaction; restricted interests and repetitive behaviors. The incidence is increasing over time worldwide. Twin and family studies have demonstrated that autism has a high heritability (>90%). Although certain progress of autism genetic study has been made in the last decades and several autism susceptibility genes and loci have been identified, there are still about 70%-80% of patients for whom an autism-related genetic change cannot be identified.
Autistic Disorder ; genetics ; Child, Preschool ; Epigenomics ; Genetic Heterogeneity ; Humans ; Infant

Next-generation sequencing, such as whole-genome sequencing, whole-exome sequencing, and targeted panel sequencing have been applied for diagnosis of many genetic diseases, and are in the process of replacing the traditional methods of genetic analysis. Clinical exome sequencing (CES), which provides not only sequence variation data but also clinical interpretation, aids in reaching a final conclusion with regards to genetic diagnosis. Sequencing of genes with clinical relevance rather than whole exome sequencing might be more suitable for the diagnosis of known hereditary disease with genetic heterogeneity. Here, we present the clinical usefulness of CES for the diagnosis of hereditary spastic paraplegia (HSP). We report a case of patient who was strongly suspected of having HSP based on her clinical manifestations. HSP is one of the diseases with high genetic heterogeneity, the 72 different loci and 59 discovered genes identified so far. Therefore, traditional approach for diagnosis of HSP with genetic analysis is very challenging and time-consuming. CES with TruSight One Sequencing Panel, which enriches about 4,800 genes with clinical relevance, revealed compound heterozygous mutations in SPG11. One workflow and one procedure can provide the results of genetic analysis, and CES with enrichment of clinically relevant genes is a cost-effective and time-saving diagnostic tool for diseases with genetic heterogeneity, including HSP.
Diagnosis ; Exome* ; Genetic Diseases, Inborn ; Genetic Heterogeneity ; Humans ; Spastic Paraplegia, Hereditary*

Dilated cardiomyopathy (DCM) is the most common cause of heart failure in young adults and up to 50% of idiopathic DCM is thought to be caused by genetic mutations in candidate genes. Although a genetic diagnosis can confirm a clinical diagnosis of hereditary DCM, genetic testing has not been easily accessible due to genetic heterogeneity and complexity. Next-generation sequencing (NGS) technologies have recently been introduced, and genetic testing for multiple genes is currently available and more than 40 different genes have been associated with DCM. In Korea, the government has supported genetic diagnosis for patients with idiopathic DCM. When a targeted gene panel with NGS technology was used, the detection rate was about 40%. MYBPC3, LMNA, and MYH7 were the most frequently identified genes, and the pattern of causative genes was different from previous reports. In the analysis, a significant number of subjects (42.0%) had rare or novel unspecified variants in DCM candidate genes, which should be assessed as potential causative mutations. Developing a more comprehensive test panel with additional DCM genes and whole exome sequencing will improve the detection rate, and allow genetic testing to be an option for patients with idiopathic DCM. However, all genetic variations are not pathogenic mutations, and the majority of reported mutations in DCM are unique to a single family, which makes genetic data interpretation more difficult. Therefore, clinical features and familial history integration are needed to improve clinical decision making.
Cardiomyopathy, Dilated* ; Clinical Decision-Making ; Diagnosis ; Exome ; Genetic Heterogeneity ; Genetic Testing ; Genetic Variation ; Heart Failure ; Humans ; Korea ; Young Adult