Genomics/Genetics

 This is a Neurodivergence blog post about the DRD4 (Dopamine Receptor D4) gene.  Its position is Chromosome 11:637,269-640,706.  I have been interested in this gene for almost two decades because of its connection to novelty seeking and Attention Deficit Hyperactivity Disorder (ADHD). Approximately 2.6% adults worldwide have persistent ADHD from childhood. Approximately 6.8% adults worldwide have symptomatic ADHD.  Almost two decades ago, I  got Thom Hartmann's book, The Edison Gene. It is based on the research studies of DRD4 7 Repeat allele which is present in 20% of the human population.  DRD4 7R allele has high frequency in the Americas but low frequency in Asia. It has been strongly linked to both ADHD (Attention Deficit Hyperactivity Disorder) and a behavior trait called "novelty seeking" which often underlies addiction. Scientists suggest that DRD4 7R occurred recently in human evolution between 10,000 and 40,000 years ago which was the period that ...

  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...