Evolution of Genetic Techniques: Past, Present, and Beyond.

Genetics is the study of heredity, which means the study of genes and factors related to all aspects of genes. The scientific history of genetics began with the works of Gregor Mendel in the mid-19th century. Prior to Mendel, genetics was primarily theoretical whilst, after Mendel, the science of genetics was broadened to include experimental genetics. Developments in all fields of genetics and genetic technology in the first half of the 20th century provided a basis for the later developments. In the second half of the 20th century, the molecular background of genetics has become more understandable. Rapid technological advancements, followed by the completion of Human Genome Project, have contributed a great deal to the knowledge of genetic factors and their impact on human life and diseases. Currently, more than 1800 disease genes have been identified, more than 2000 genetic tests have become available, and in conjunction with this at least 350 biotechnology-based products have been released onto the market. Novel technologies, particularly next generation sequencing, have dramatically accelerated the pace of biological research, while at the same time increasing expectations. In this paper, a brief summary of genetic history with short explanations of most popular genetic techniques is given

Laboratory genetic testing in clinical practice 2014.

WOS: 000352434200001PubMed ID: 2587902

Laboratory Genetic Testing in Clinical Practice 2016.

WOS: 000392526600001PubMed ID: 2813360

Genotyping of Streptococcus mutans by using arbitrarily primed polymerase chain reaction in children with Down Syndrome

PubMed ID: 16159656Objective: The aim of this study was to compare the caries prevalence between Down Syndrome (DS) and non-DS children and to investigate the difference between the genotypes of Streptococcus mutans (S. mutans) colonized in both DS and non-DS groups. Design: Sixty children with DS and 64 non-DS children aged between 7 and 12 years old were included to this study. All erupted teeth were evaluated according to the criteria recommended by the World Health Organization. Unstimulated saliva samples were carried out from the children and cultivated on S. mutans selective Tryptone-yeast-cystine (TYC) agar with 0.2 U/ml bacitracin and 15% sucrose. Molecular typing of S. mutans strains was performed by using arbitrarily primed polymerase chain reaction (AP-PCR) with OPA-05 primer. All data were analysed by using SPSS (SPSS Inc., Chicago, IL, USA) 11.0 software program for windows. Results: The caries index scores were found significantly lower in DS individuals than the non-DS group (p 0.05). The difference between dental caries and salivary S. mutans levels also was not statistically significant (p > 0.05). According to the results of the AP-PCR typing, all profiles of S. mutans which colonized in DS group were different from the control group. The relationship between these different profiles and dental caries prevalence was statistically significant (p < 0.05). Conclusion: The profiles of S. mutans colonized in DS group might be a reason of low caries prevalence. © 2005 Elsevier Ltd. All rights reserved

TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION

WOS: 000370465300008PubMed ID: 26852514Twins with Kleefstra syndrome due to chromosome 9q34.3 microdeletion: Kleefstra or 9q subtelomeric deletion syndrome (9qSTDS) is a rare microdeletion syndrome. The most prominent phenotypic features include hypotonia, developmental retardation, as well as typical dysmorphic face. It has been shown that terminal deletions of the chromosome 9q34.3 region, or EHMT1 gene mutations, lead to Kleefstra syndrome. We present 16-month-old twin sisters, one of whom had originally been referred for Down syndrome screening due to hypotonia, growth and development retardation, dysmorphic facial signs, and accompanying congenital heart disease. They were subsequently diagnosed as Kleefstra syndrome based on subtelomeric FISH analysis. In conclusion, Kleefstra syndrome should be considered in the differential diagnosis of Down syndrome because it presents with very similar phenotypic features