Gene Genie #4

 
Welcome to the 4th edition of Gene Genie: "A blog carnival on genes and gene-related diseases. We plan to cover the whole genome before 2082."

The first three editions are: Gene Genie #1 at Scienceroll, Gene Genie #2 at Sciencesque, and Gene Genie #3 at Genetics & Health.

Our first gene is called the hemochromatosis gene (HFE) [OMIM 235200]. Defects in this gene, located on chromosome 6 at p21.3, interfere with iron uptake and storage. Hsien Hsien Lei discusses a mutation that increases the risk of stroke [HFE Gene Associated with Three Times the Risk of Stroke]. She also discusses a new book by Sharon Moalem called Survival of the Sickest. It turns out that the first chapter covers hemochromatosis.

Steven F. Palter posts on a very sensitive topic—whether a patient wants to know if they carry a possibly lethal genetic mutation. For example, what if you are at risk for Huntington's disease and you simply do not want to know whether you will die in your 40's or not? That's fine as long as you don't have children but do you want to pass the defective gene to your children if you carry it? How can you have children without risk if you don't want to know whether you are a carrier or not? It turns out there's a way and Steven Palter explains how in Beyond Genetic & Prenatal Testing- Pre-embryo Testing - Hiding the Results From the Patient.

Tim Erickson presents Random OMIM Search Term of the Day: ?Amber? posted at Sciencesque. In case you don't know about OMIM, it stands for Online Mendelian Inheritance in Man and it's quite possibly the best scientific database site on the internet. Anything you want to know about genetic disease in humans is there.

Tim's random search takes him to the DSPP gene on chromosome 4q21.3 and a fascinating, and slightly gory, discussion about tooth decay.

My own contributions are a summary of the number of genes on each human chromosome [Summary of Genes on Human Chromosomes, RNA Polymerase Genes in the Human Genome (POLR1A, POLR2A, POLR3A, POLR1B, POLR2B, POLR3B) and Genes for Hemophilia A & B and von Willebrand disease (F8, F9, VWF).

Altogether, we've discussed 11 more genes in this edition of Gene Genie. By my reckoning, that only leaves about 23,900 to go.