Albinism is a diverse group of hypopigmentary disorders caused by multiple-genetic defects. The genetic diagnosis of patients affected with albinism by Sanger sequencing is often complex, expensive, and time-consuming. In this study, we performed targeted next-generation sequencing to screen for 16 genes in a patient with albinism, and identified 21 genetic variants, including 19 known single n...

Abstract Background Graves’ disease(GD) has a tendency for familial aggregation, but it is uncommon to occur in more than two generations. However, little known about susceptibility genes GD the three-generation family. Methods DNA were extracted from patient with strong genetic background Chinese Han population. The Whole Exome Sequencing (WES) was utilized screen genome SNVs associated and Sa...

Background and Aim: Toll-like receptors (TLRs) are important for the recognition of pathogen-associated molecular patterns. Single nucleotide polymorphisms (SNPs) within TLRs have a potential impact on alteration susceptibility or resistance to inflammatory diseases. This work focused case-control study distribution SNPs in TLR2 gene test their role endometritis occurrence river buffalo.
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Cleft lip with or without cleft palate (CL/P) and only (CPO) are congenital birth defects where the upper and/or fail to fuse properly during embryonic facial development. CL/P CPO fall under larger category of orofacial clefts (OFCs), which affect ~1.2/1000 live births world-wide imposes significant social financial burdens on affected individuals their families. The etiology is complex likely...

Association studies of SNPs have become very important in determining how genetic variants are linked to complex diseases, quantitative traits, and physiological responses. Genetic polymorphisms the GLP-1R gene potentially decreased protein stability associated with many especially diabetes obesity. This study aimed screen expression investigate polymorphism by using several beneficial bioinfor...

lamellar ichthyosis is one form of congenital autosomal recessive ichthyosis. to date, seven causative genes for arci have been identified. to understand further the genetic spectrum of the disease, we analyzed a four-generation iranian family with arci that had observable inheritance. exome sequencing data for one of the affected individuals with ichthyosis from a consanguineous iranian family...

Abstract Background Thrombospondin-related adhesive protein (TRAP) is a transmembrane that plays crucial role during the invasion of Plasmodium falciparum into liver cells. As potential malaria vaccine candidate, genetic diversity and natural selection Pf TRAP was assessed global polymorphism pattern described. Methods 153 blood spot samples from Bioko patients were collected 2016–2018 target g...

Recent technological advances have allowed us to study individual genomes at a base-pair resolution and have demonstrated that the average exome harbors more than 15,000 genetic variants. However, our ability to understand the biological significance of the identified variants and to connect these observed variants with phenotypes is limited. The first step in this process is to identify geneti...

To promote the clinical and epidemiological studies that improve our understanding of human genetic susceptibility to environmental exposure, the Environmental Genome Project (EGP) has scanned 213 environmental response genes involved in DNA repair, cell cycle regulation, apoptosis, and metabolism for single nucleotide polymorphisms (SNPs). Many of these genes have been implicated by loss-of-fu...