Genomics/Genetics

  This is a blog post about people with Rh negative blood. I grew up being very interested in Rh negative group.  My mother had told me that I had rare blood and that I was Rh negative.  After I joined the navy at the age of 19 in 1991, I got my dog tags which revealed that my blood type is O positive. My mother was wrong about me having Rh-negative blood. My genetic testing results also shows that my blood type is O positive.  I've been wondering what made her think that I have rare blood type and that it was Rh negative.   The Rh blood group system is a human blood group system. It contains proteins on the surface of red blood cells. After the ABO blood group system, it is the most likely to be involved in transfusion reactions. The Rh blood group system consisted of 49 defined blood group antigens in 2005. As of 2023, there are over 50 antigens among which the five antigens D, C, c, E, and e are the most important. There is no d antigen.  RHD (Rh Bl...

   This is a blog post about rare Nonsense Mediated Decay-escaping stop gained variants. A stop-gained variant, also known as a nonsense mutation, is a type of genetic change where a single nucleotide substitution introduces a premature termination codon (PTC) within the coding sequence of a gene. This leads to early termination of translation, producing a truncated protein. Depending on the location of the PTC and the structure of the affected transcript, the variant may trigger nonsense-mediated decay (NMD) or escape it, making the biological impact isoform-specific and context-dependent. Nonsense-mediated decay–escaping (NMD-escaping) describes a situation where a transcript containing a premature termination codon (PTC) avoids degradation by the cell’s NMD pathway and remains stable enough to be translated. While NMD typically prevents the production of truncated proteins by degrading transcripts with early stop codons, escape occurs when the PTC is located in the last exo...

                       Potential ADHD Genes Based On Ma'ayan Lab's ARCHS4 Data - Assistance From ChatGPT   Introduction to Gene Information for ADHD Attention-Deficit/Hyperactivity Disorder (ADHD) is a complex neurodevelopmental condition influenced by a combination of genetic, environmental, and neurological factors. Recent advancements in genomics have enabled researchers to identify specific genes and pathways that may contribute to the symptoms and traits associated with ADHD, such as inattention, impulsivity, and emotional dysregulation. This blog post explores detailed information about key ADHD-related genes derived from the ARCHS4 database, which provides insights into gene expression, biological processes, pathways, and tissue-specific activity. By analyzing this data, we can better understand how these genes influence neural and behavioral functions, shedding light on the biological underpinnings of ADHD. The gen...