December 8th 2016 archive

Bloom Syndrome Mutation Story

Hi I am a gene but I’m not just any ordinary gene, I am unique. What makes me different is I have a special mutation called Bloom Syndrome. I’ll tell you about how I got to where I am while I take you on a trip down memory lane. It all started when my host’s parents had initial contact. Both of their chromosomes crossed over but a mutation started forming in the BLM gene. This leaded to mutated DNA helicase proteins because the BLM gene’s job is to provide instructions on making protein. When this happened the cells went through genomic instability which means a high frequency of mutation. When my host was born she was under the average weight. As she started mumbling and talking her voice was very high pitched. As she grew up her parent’s noticed she was much shorter compared to the other kids. She also had to wear plenty of clothing to cover her up because when her skin got exposed to sun, rashes would start to form. Her first day of school was great as the kids did not noticed anything different about her but as she moved up grades kids started noticing differences about her. They started making fun of her and wouldn’t let her play.

Writing this story went pretty smooth however I found there wasn’t enough information about my topic to make my story really detailed. I probably could’ve gone to more websites but with the due date close I did not have enough time.