One example is Down syndrome, in which the person has an extra copy of the genes found in chromosome 21. Not all mutations make a difference. Some "silent" mutations don’t change how the protein ...

A new study published in PLOS Genetics has identified an extreme mutational hotspot within the genome of Pseudomonas ...

POLG-related diseases disrupt the function of the mitochondria, or "powerhouses" of the cell — starving them of energy.

The small study in patients with a rare disorder that causes liver and lung damage showed the potential for precisely ...

Acquired DNA mutations found in the SERPINA1 gene can protect liver cells from damage in patients with alpha-1 antitrypsin ...

DNA segments that can move from one part of the genome to another -- are key to bacterial evolution and the development of antibiotic resistance. Researchers have discovered a new mechanism these ...

The AIP gene is located on the 11th chromosome (Figure 1). Patients with an AIP mutation have one normal copy of the gene and one abnormal copy. This is called a heterozygote state. Figure 1. The AIP ...

In most cases, females possess two X chromosomes, while males have one ... in each generation which helps to eliminate damaging gene mutations," Darren Kent, a professor at the University of ...

Having two copies of the MTHFR gene mutation may raise your risk for certain health conditions, though more research is needed. You may have the mutation and not find out unless you undergo ...

a distinguished professor in the Department of Molecular Genetics and Microbiology whose work specializes in repeat expansion mutations and their role in neurodegenerative disorders. "The impact ...

At the largest level, whole chromosomes or even whole copies ... of new genes (by pasting material from different genes together). A single mutation can have a large effect, but in many cases ...

A single base change can create a devastating genetic disorder or a beneficial ... Cystic fibrosis Chromosomal mutation Inversion One region of a chromosome is flipped and reinserted Opitz ...