Many phenotypic traits of the human body and their susceptibility to drugs and diseases may be associated with some genetic loci or associated with genes that contain multiple loci. Whole genome association analysis (GWAS) is a hot spot in the analysis of genetic disease loci. In this paper, a Apriori algorithm based on Apriori algorithm is proposed for the analysis of genetic disease loci in genetic diseases. The experimental results show that the algorithm can effectively find the genetic disease gene loci.

With the special intention to introduce the most widely adopted phylogenetic analysis human mitochondrial DNA (mtDNA) studi,the history of the reconstruction of mt DNA phylogny was reviewed. And the applications of human mtDNA phylogeny in studying human evolution, estimating the quality of mtDNA data, and distilling the disease-associated mtDNA mutation were then summarized in the present review.

Notch signal transduction pathway is one of the important pathways that affect the fate of cells. Adjacent cells transmit signals through Notch receptors to regulate the differentiation, proliferation and apoptosis of many kinds of cells, including stem cells. Affects organ formation and morphogenesis. Gene mutations of some molecules in Notch signaling pathway are related to the occurrence and development of many diseases. On the basis of in-depth study of Notch signal transduction pathway, using it as a target to design drugs for the treatment of related diseases, including cancer, CADASIL and other hereditary diseases, or the development of stem cell medical techniques. Surgical treatment of Alzheimer's disease (disease,AD), Parkinson's disease, diabetes mellitus and other cellular tissue dysfunction or impaired diseases has important scientific significance and application value.

According to previous reports, nearly one in 10 genetic diseases are caused by nonsense mutations around the world. Nonsense mutations lead to premature transcription terminations in cells, which in turn generate non-functional, truncated proteins. In recent years, read-through drugs are playing increasing prominent roles in the researches related to genetic diseases caused by nonsense mutations. However, due to the fact that the mechanisms lying behind translation termination still remain to be elucidated, the mechanistic research and clinical application of read-through drugs are facing new challenges. This review mainly discusses about the pathogenesis of genetic diseases caused by nonsense mutations, and then introduces the current clinical application of read-through drugs. Finally, we display some problems that remain to be solved and propose some possible coping strategies.

At present, there are still a lot of diseases pathogenesis not clear, but making use of a new generation of sequencing technology to organisms conduct whole genome sequencing, which for the pathogenesis of many diseases provide a new theoretical basis. So, Which aspects the whole genome sequencing in medical use? In this article, I got through reading the whole genome sequencing of research papers about abroad nearly five years finding that the whole genome sequencing could be widely used in genetic disease, tumor, infectious diseases, infectious epidemic, judge the individual susceptibility to disease, the diagnosis and treatment of a variety of diseases such as biological evolution. This paper reviewed the whole genome sequencing progress in medical application from a genetic disease, tumor, infectious diseases, infectious epidemic, determine the individual susceptibility and biological evolution.