Genetics

Abstract

DNA is the blueprint of our human body, and the variations in DNA are the source for the phenotypes of different individuals. With the advancement in the DNA sequencing technologies and the completion of the human HapMap project, we can now better determine the status of risk or causative genetic variants that may lead to the development of disease. Not only can we make use of the technologies to discover every type of DNA variations in the genome, such as single nucleotide polymorphisms and microsatellites, but other variations such as rare alleles and the copy number variations can also be unmasked. These variations may explain some more genetics effects for disease phenotypes and can be used as markers to study the relationship between genotypes and phenotypes. The use of linkage analysis on familial subjects, case-control association studies using population-based subjects on biologically relevant candidate genes or case-control association studies on a genome-wide scale using gene-chip arrays have made mapping of the disease gene possible. Scoliosis is a condition in which the spine becomes deformed and bent abnormally. It affects millions of growing children in the world. The cause is still ill defined. However, it is believed that scoliosis is a complex genetic disorder caused by multiple genes with small effects combined with environmental factors. Candidate-gene and genome-wide association studies using case-control design are the best tools to analyze complex disorders like scoliosis. We believe that with better understanding of human genetics, the cause of scoliosis will likely be elucidated in the not-too-distant future.