Inherited Traits, Mutations, DNA & Genes

Ever wonder where you got your blue eyes or red hair? What DNA traits dictate freckles or dimples? Read all about your inherited traits, DNA and genes as well as fascinating articles on mutations and mutated chromosomes.

The Human Ribonuclease-1 Gene And Its Functions

The ribonuclease-1 gene is involved in many important processes in our bodies. This article describes this interesting gene, what it does in the human body, and the ribonuclease-1 gene mutations and the genetic studies that have helped biologists characterize its molecular function.

Human MDH Gene Mutation

Malate dehydrogenase is an important element of the metabolic pathway in the human body, and MDH gene mutation can prove disastrous. Find out why!

Genetic Tests

This article will discuss genetic tests and rare genetic mutations. Four groups of tests will be considered and diseases caused by rare genetic mutations will be briefly mentioned.

The MTP Gene Mutation in Humans

The protein encoded by the MTP gene is involved in the assembly of lipoproteins. MTP gene mutation may lead to a rare disease called abetalipoproteinemia. Genetic variations of the gene have been associated with central obesity, alcoholic fatty liver disease, and cardiovascular diseases.

BRAF Gene Mutation in Humans

The BRAF gene is a serine/threonine protein kinase. BRAF gene mutation has been associated with different kinds of cancer, such as lung cancer, colon cancer, thyroid cancer, melanoma, and non-Hodgkin lymphoma. This gene has been suggested as an important target for cancer treatment.

What is the Effect of the MTHFR Gene Mutation in Humans

MTHFR is an enzyme essential for the homeostasis and normal metabolism of intracellular folate. MTHFR gene mutation has been related to many diseases including colon cancer, leukemia, vascular disease, depression, schizophrenia, migraine with aura, glaucoma, Down syndrome, and neural tube defects.