Journal of Human Genetics and Genomics
Volume:5 Issue: 2, Dec 2021

Familial Hemophagocytic lymphohistiocytosis is an autosomal recessive lethal disorder caused by mutations in several genes. The immune system is overactivated in this disease and several organs such as liver and spleen are affected. Since Haematopoitic stem cell transplantation is essencial for surviving the patients with familial hemophagocytic lymphohistiocytosis, the easrly diagnosis is critical.

The aim of this study was to determine the probable genetic cause of disease in an infant with unclear primary diagnosis and suspected to suffer from blood cancer, Hemophagocytic lymphohistiocytosis or polycyctic liver disease.

Whole exome sequencing and Sanger sequencing were used to investigate the mutation and its confirmation respectively.

We found a compound heterozugous mutation in PRF1 gene including one novel nonsense and one previously reported missense mutations.

Due to the disease and clinical heterogeneity, next generation sequencing is the recommended method to find the disease causing mutations and confirm the disease.

 The Islets of Langerhans include Alpha, Beta, Delta, and Epsilon cells whose secret hormones play important roles in glucose metabolism as well as some physiological processes in our own body.

In this study, we selected a microarray row data of transplanted pancreatic Islets from Gene Expression Omnibus (GEO) database. The row data of 10 individual samples was analyzed with R programing software. Top expressed genes in human pancreatic islets were chosen and the gene stable IDs were returned to gene names and descriptions by BioMart tools. The selected genes were categorized into biological processes by Protein Analysis Through Evolutionary Relationships (PANTHER) online database. Also, sub-cellular localization of their proteins was investigated by the protein atlas database.

The results showed that the quality controls of all 10 individual samples of microarray chips such as signal intensity and uniformity of the images were passed. From 336 genes, 284 proteins were classified by PANTHER online database. They are categorized into “Translational proteins”, “Metabolism enzymes”, and “Protein modifying enzymes” biological processes, respectively.

In this study, we presented 500 top-ranked expressed genes in human pancreatic islets. We also represented calcification and sub-cellular localization of these high expressed genes in separate supplementary files. Research data can be used for pancreatic research as well as potential drug design for type I diabetes or pancreatic cancers.

Colorectal cancer is the third most common cause of cancer deaths in the world. Mucins are large glycoproteins that are expresses by epithelial cells in tubular organs. They recreate important functions in the regeneration and differentiation of epithelium, cell adhesion, immune response, and cellular signaling. In this study, mucin-19 and 21 gene expression were investigated in cancerous tumor samples, and tumor margins in patients with colorectal cancer. The purpose of working on these genes is their potential biomarker for the diagnosis of colorectal cancer. After extraction of RNA from 30 pairs of tumor and peripheral tumors of the colorectal tumor, cDNA was synthesized using a thermosetting kit, and RT-PCR was used to find the optimum temperature and specificity of primers. Then, real-time qPCR was performed to examine the difference between the gene expression of mucin on the tumor and tumor margins. This study showed an increase in the expression of mucin 19 in colorectal cancer tissue samples with tumor margins. Conclusion The upregulation levels of mucin 19 gene can correlate with colorectal cancer progression. Therefore, Mucin 19 may be used as a biomarker for detecting colorectal cancer development.

22q11.2 deletion is a common microdeletion, and about 30% of patients with 22q11.2 deletion develop schizophrenia. PRODH is one of the genes located in 22q11.2 and encodes the proline oxidase enzyme (POX) in the mitochondrial inner membrane and is expressed in the skin, liver, kidney, and brain. The PRODH gene's polymorphisms in increasing the risk of getting afflicted with schizophrenia have been demonstrated in previous Linkage and Association studies. Proline dehydrogenase enzyme (POX) 's role is to catalyze proline's conversion into glutamate. Reduced enzyme leads to increased proline and decreased glutamate and resulting in hyperprolinemia. It has been proven that P19Q mutation in PRODH declines pox enzyme activity and is associated with schizophrenia disorder. 

In the present study, the rs2008720 variant in the PRODH gene was genotyped in 100 schizophrenic patients whose diseases were confirmed by experts and in 100 healthy people without any history of schizophrenia and bipolar disorder in their pedigree. 

To identify this variant, the PCR-RFLP technique has been adopted. The association of mutant and normal variants between the two groups afflicted with the disease and non-afflicted with the disease has been analyzed by SPSS 16 software. 

According to our results, we found no association between P19Q missense mutation and schizophrenia disorder in Iranian patients. So the P19Q missense mutation could not be considered co-related with the increasing risk of schizophrenia in Iranian patients.

 22q11.2 deletion is a common microdeletion, and about 30% of patients with 22q11.2 deletion develop schizophrenia. PRODH is one of the genes located in 22q11.2 and encodes the proline oxidase enzyme (POX) in the mitochondrial inner membrane and is expressed in the skin, liver, kidney, and brain. PRODH gene's polymorphisms in increasing the risk of getting afflicted with schizophrenia have been demonstrated in previous Linkage and Association studies. The proline dehydrogenase enzyme (POX) 's role is catalyzing proline's conversion into glutamate. Reduced enzyme leads to increased proline and decreased glutamate and resulting in hyperprolinemia. It has been proven that P19Q mutation in PRODH declines pox enzyme activity and is associated with schizophrenia disorder.

In the current study, rs2008720 variant in PRODH gene was genotyped in 100 schizophrenic patients whose diseases were confirmed by experts and in 100 healthy people without any history of schizophrenia and bipolar disorder in their pedigree.

To identify the variant, PCR-RFLP technique has been adopted. The association of mutant and normal variants between the two groups afflicted with the disease and non-afflicted with the disease has been analyzed by SPSS 16 software.

According to our results, we found no association between P19Q missense mutation and schizophrenia disorder in Iranian patients. So the P19Q missense mutation could not be considered co-related with the increasing risk of schizophrenia in Iranian patients.