Research progress in the role of gut microbiota in human diseases / 国际生物医学工程杂志

Gut Microbial species have different physiologic functions, such as digestion, nutrition, immunity, etc. Studies have shown that gut microbiota plays an important role in intestinal function. Gut microbiota is a complex ecosystem that participates in the physiological and pathological processes of the human body and forms a dynamic equilibrium with the human body. If this balance is broken, it may lead to or aggravate the occurrence and development of diseases. In recent years, researches have confirmed that the biological composition of gut microbiota in patients with diseases is significantly different from that of healthy people. The detection and transformation of gut microbiota has certain value and therapeutic effect on the diagnosis of diseases. Systematic biological methods can be used to study the relationship between gut microbiota and immunity and metabolism. In this paper, the related researches on the interactions between gut microbiota and human diseases were reviewed, including immunodeficiency-related diseases, autoimmune diseases, celiac diseases, intestinal microbial-related metabolic diseases and neurological diseases, and the related pathogenesis was summarized as well.

Application of whole exome sequencing technique for the pathogenic gene screening of rare osteopetrosis / 国际检验医学杂志

Objective To screen the pathogenic gene of osteopetrosis to provide reference for its genetic di-agnosis and prognosis .Methods The clinical data and peripheral blood samples were collected from the pa-tients with osteopetrosis ,DNA was extracted ,the whole exome sequencing library was built ,then the high throughput detection was performed and the pathogenic gene was screened by combining with the bioinformat-ics technology .Results The whole exomes in 2 cases of osteopetrosis were analyzed ,the average sequencing depth of the two samples were 169 .38X and 231 .06X respectively ,in which the case 1 carried rare mutation TCIRG1(c .1305+2T>C) ,TCIRG1(c .2008C> T ) and CLCN7(c .1116C> T );the case 2 carried a rare muta-tion CLCN7(c .857G>A ) .T he bioinformatics analysis indicated that the rare mutations carried by these cases all had different degrees of influence on the structure and function of gene products .Conclusion The whole exome sequencing can once screen the know n pathogenic mutations of osteopetrosis ,is an effective tool for pathogenic mutation screening of osteopetrosis ,the clinical disease in 2 cases of osteopetrosis may be closely related with the patient′s carrying TCIRG1 and CLCN7 mutation .