The CRISPR/Cas9 system provides a powerful technique for targeted gene editing. Using sequence-specific sgRNA guidance, the CRISPR/Cas9 system can accurately introduce double-stranded incisions into the exact location of the target DNA. At present, a large number of CRISSR/Cas9 gene editing studies involving multiple species in vivo and in vitro have fully demonstrated the tremendous potential of this technology, which brings hope for disease treatment research and clinical application based on this technology. This review will summarize recent advances in the use of CRISPR/Cas9 gene editing techniques in the treatment of human genetic diseases. Progress in pre clinical research.

Mitochondrial genetic diseases are receiving increasing attention. However, the common case-control methods are susceptible to genetic background, population stratification, data quality and other factors that may lead to false positive results. The field of genetic diseases has not been paid enough attention. Therefore, this paper reviews this method and promotes the extensive and in-depth use of mitochondrial gene.

With the development of the Human Genome Project, many methods have been applied in this field. Since the 1990s, large-scale scanning and mapping of base circles have been established and developed by combining linkage analysis with automation in genomes. At present, it has become the most widely used and effective means in this field.

Bovine genomic DNA mutations and their genetic effects on gene expression and protein function influence disease susceptibility and resistance of cattle. The genetic loci related to cattle diseases are mainly divided into two types: single-locus-disease genes and multigenic-disease loci. The single-locus-disease genes are called causal mutations; their genetic basis is simply and normally detected in the coding and non-coding regions inducing substitution of amino acid, premature termination of translation, and complete deletion of entire exon(s). In contrast, the genetic basis of disease related to multiple genes is more complex since susceptibility or resistance of these diseases is affected by the interactions among host, pathogen, and environment. This article reviewed current research and application of the major diseases of cattle con- trolled by single gene or polygenic genes. The genetic control strategies of effective identification and control of these dis- eases in bovine breeding and production were also analyzed.

The mutation genetic material, including genetic mutations or chromosome aberration, is the source of genetic disease happen, is also different from other diseases of the basic characteristics. Vigorously developing test and genetic screening, timely detection genetic disease patients and virulence genes carriers, is the only feasible method to improve population quality, promote a happy family, social prosperity, prosperous country. Genetic counseling for detection genetic disease patients and virulence genes carriers, and effective and feasible marriage guidance, birth guidance, play an important role in reducing the birth of the sick children and preventing the happening of the disease of children. In prenatal diagnosis of the fetus involved in disease treatment of moral choice in the problem, follow the four basic principles: first, respect the couple’s choice; second, don’t damage the individual and family; third, reliable prenatal diagnosis results; fourth, voluntary prenatal diagnosis and genetic counseling. These standards in all countries of the world have undoubtedly commonalities.