Mutation rate

Skin tags are harmless little flaps of skin that seem to appear out of nowhere for no reason. If you find a skin tag under your arm or on your neck, there is no need to worry as skin tags are not an early warning sign of skin cancer. In fact, they have no connection with cancer at all, but they may be unsightly and uncomfortable. Skin tags grow on a stalk and usually develop on the chest, back, neck, under the arms or breasts and in the groin area. Scientists do not know why skin tags develop…

recessive condition, the parents of an affected child are both heterozygotes. There are two possible exceptions, both of which are very rare. These arise when only one parent is a heterozygote, in which case the child can be affected if either a new mutation occurs on the gamete inherited from the other parent, or uniparental disomy occurs resulting in the child inheriting two copies of the heterozygous parent’s mutant allele. When calculating risks in autosomal recessive inheritance, the…

Whether its start to end, head to tail, or conception to birth there is countless of things that could go wrong. A genetic disorder is a problem that is caused by one or more malformations in the genetic information. Some can go from being unnoticed and some can be very obvious. Genetic disorders are mostly all very unusual. There is an endlessly amount of genetic disorders that exist, the following are just three out of the thousands. Ectodermal dysplasia is not just a single disorder, it is a…

A Scientist’s Point of View We already know the basics of genetic testing, but I wanted to get a more professional and personal view on this medical controversy that is why I decided to knock on the door of Emma Rennie. Emma is a Ph.D. R&D scientist who works for Agilent Technologies in Santa Clara, and when she first introduced herself I was very intrigued about what she was going to say. It all started on a cloudy Saturday afternoon, I was eagerly waiting for Emma to open the front door. I…

genetic mutations that occur during Meiosis or replication are not passed genetically to offspring. Though there are some genetic disorders that occur during replication or Meiosis that are passed onto offspring not all are. Some non-inheritable disorders are due to random events that occur in reproductive cells. An example of an event in a reproductive cell is the gain or loss of chromosome. All changes in somatic cells however are never heritable. Angelman syndrome is a genetic mutation that…

functioning of energy production and apoptosis. TAZ mutations are associated with the X-linked metabolic disorder, Barth syndrome (BTHS). BTHS is a lipid metabolic disorder that affects mitochondria that is often fatal in infancy and early childhood, due to heart failure and life threatening opportunistic infections. Using Sanger sequencing and whole exome sequencing, we identified two patients with TAZ mutations, one with a novel hemizygous mutation c.36_57del (p.V12fs) without cardiomyopathy…

Institution for Basic Research in Developmental Disabilities, and The University of Michigan discovered the cause was a single point mutation. A substitution of one point on a gene called Lamin A (LMNA), causes Progeria. As Progeria is caused by a gene mutation in the sperm before conception,…

Each year about four million babies are born around the world. Out of four million only three percent will be born with a genetic disorder and around one percent of the babies will be born with chromosomal abnormality. The reactions to these disorders vary from stares to happiness, resulting in the child feeling different or abnormal but it should not be a thing to frown upon. Ectodermal dysplasia is a group of syndromes that involve defects in the skin,hair, and nails. There are about more…

during early embryogenesis. In addition, it has discovered that there is more than one gene can cause the disease and which genes on chromosome 8, 11 and 17. And it is a rare disease and the different incidence of this disease around the world at a rate of 1 to 1…

LEBER HEREDITARY NEUROPATHY PATHOPHYSIOLOGY Three mitochondria mutations contribute to Leber hereditary neuropathy disease. The three mitochondria mutations G11778A, G3460A, T14484C occurs inside of complex 1 Nicotinamide Adenine Dinucleotide ubiquinone oxidoreductase (Chinnery et al., 2001). Complex 1 NADH: ubiquinone oxidoreductase is mainly for the transferring of electrons within the mitochondrial in the respiratory chain (Garmier et.al, 2008). When the respiratory chain is not…