Fibrodysplasia Ossificans Progressiva The human body is a remarkable structure! Physicians and scientists around the world have been fascinated by its intricate systems for centuries. Fibrodysplasia ossificans progressiva, also know as FOP, has been of peculiar interest to those who have happened to stumble upon it. FOP is a condition in which soft tissue permanently transforms into bone over time. This abnormal growth is not limited to a particular area of the body but forms in muscles, tendons…
This mainly happens due to a problem with cell division, and because chromosomes are the carriers of the genetic material, abnormalities in chromosome number or structure can result in disease. The most known disorder under this type of inheritance disease is Down Syndrome. Down Syndrome occurs when a person has three copies of chromosome 21. Mitochondrial inheritance is a type of genetic disorder caused by mutations in the non-nuclear DNA of mitochondria…
(Reece et al. 2014) The Mitotic (M) Phase occurs in two parts: Mitosis and Cytokinesis During mitosis the DNA of the cell condenses into chromosomes and removed by the mitotic spindle. Mitosis takes place in four stages: prophase, prometaphase, metaphase, anaphase, and telophase. In cytokinesis, the cytoplasm of the cell is split in two, making two new cells. Cytokinesis usually begins just…
This is known as a genetic disease that usually occurs in 1 out of 10000. This disease is known to affect the growing ends of bones. This disease will prevent ossification which is a process in which bones elongate because of the deposition of cartilage. This disease is also known by the name Fairbank’s disease. Introduction During the whole course of the report we will see all the major causes of Fairbanks disease. We will explore how the disease actually works in the body and look into all…
to be secreted. A blighted ovum is also called an anembryonic pregnancy. Women with this condition test positive for pregnancy even though they are not pregnant. CAUSES This condition may be caused by: A problem with a type of gene called a chromosome. A poor quality sperm or egg. SYMPTOMS Early on signs of pregnancy may develop, such as: A missed menstrual period. Fatigue. Feeling sick to your stomach (nauseous). Sore breasts. A positive pregnancy test.…
Daughters born to male carriers will inherit their fathers affected X chromosome and they will also be carriers. Sons born to male carriers will not inherit their fathers X chromosome and furthermore will not be affected by Fragile X. Although the level of these repeats varies for each person, boys seem to have more severe impacts then girls; this is because boys only have one X chromosome whereas girls have 2. The segment which repeats and causes this condition is called the “CGG…
the chromosome 21 to separate during sperm or egg development. As a result of this, a sperm or egg is produced with an extra chromosome 21. When it is combined with the other normal cell, the baby has 47 chromosomes out of which 3 are chromosomes 21. In 88% of the cases, trisomy 21 arises from the non-separation of the chromosomes in the mother, 8% from the non-separation of the father and only 3% when the egg and the sperm have merged together to form one. Translocation The extra chromosome…
permanent change in the sequence of DNA that usually cause harmful effects to the physical body; for the animal being tested this is caused by foreign chemicals of the drug that cause mutations. When this happens the mutation causes changes to the chromosomes which makes the physical appearance of the animal change, this becomes as disadvantage when the animal develops a mutation that may be in favour of the animal e.g. increased…
information is contained in the nucleus, coiled to make chromosomes – 23 pairs in total. Each chromosome codes for a specific trait, and contains genes – the code for proteins. Chromosomes consist of two sister chromatids joint by a centromere, with the regions above the centromere called the ‘p’ arms and the region below called the ‘q’ arms (see figure 1). 22q11 deletion syndrome (22q11DS) refers to the deletion of a section of the q arm of the 22nd chromosome at position 11. (NHS, 2015)…
DEFINCIENCY OF ENZYME beta- hexosaminidase A CAN CAUSE TAY-SACHS DISEASE DEFINITION: Tay-sachs disease is a rare genetic disorder found commonly in isolated genetic such as Jewish Population. This is also known as a fatal genetic lipid storage disorder in which harmful quantities of cell membrane components named ganglioside accumulate in the brain stem cells, eventually leading to the premature death of cells. II. SYMPTOMS: Diagnosis can be confirmed either by enzyme analysis or mutation…