Autosomal dominant polycystic kidney disease affects 1 in 500-1,000 people, while the autosomal recessive type occurs in an estimated 1 in 20,000-40,000 people. What genes are related to polycystic kidney disease? Mutations in the PKD1, PKD2, and PKHD1 genes cause polycystic kidney
Achondroplasia is defined as a genetic disorder stopping normal growth of cartilage, resulting in a form of dwarfism characterized by a usually normal torso and shortened limbs. Achondroplasia was discovered in the year 1994 by a group of scientists led by Dr. John Wasmuth. It’s usually inherited as an autosomal dominant trait. Scientist discovered that the gene responsible for achondroplasia has been mapped down to chromosome 4p16.3 (refs 7, 8). The gene contains a member of the fibroblast-growth-factor receptor (FGFR3) family, which is shown in articular chonfrocytes.
Whereas grand fathers are far less likely to invest because not only might they not be the father of their son but their son might not be the father of the new offspring. Child rearing for women comes at a high expense. They have to care for the child for a minimum of nine months and then they are relied up on by the child after the birth for demands such as breast feeding. Therefore females not only make the greater parental contribution but also the largest postnatal contribution. Random mating is therefore so much more costly for women compared to men.
Muscular dystrophy is a group of thirty or more hereditary genetic disorders that are characterized by muscle weakness and loss of skeletal muscle tissue. There are nine forms of muscular dystrophy: Duchenne, myotonic, Becker, limb-girdle, facioscapulohumeral, congenital, oculopharyngeal, distal, and Emery-Dreifuss. All forms are hereditary and progressive. Some of the symptoms include progressive muscular wasting, poor balance and coordination, inability to walk, scoliosis, drooping eyelids, and respiratory difficulty. There is currently no cure for any form of muscular dystrophy.
Muscular Dystrophy The disorder Muscular Dystrophy is a genetic disorder that weakens the muscles that help move the body. MD is a genetic disorder that people are born with, it mostly occurs in males, and the disorder usually starts from birth or between the ages of 2 and 5. It’s caused by missing information in the genes that stops them from making the proteins that help give healthy muscles. With this disease muscles weaken over time, causing children all the way to adults to slowly lose the capability to do the things most people take for granted, like walking or running (Nemours, 1955-2011). With MD it varies in people looking at the type and development of the disorder.
Tay-Sachs Disease and The Teaching Plan Tay-sachs disease is an inherited disease that is common among Ashkenazi-Jewish population. It occurs from a mutation in the HEXA gene also known as deficiency of the human chromosome 15 in DNA. This missing chromosome affects nerve cells in the brain. This disease is an autosomal recessive inheritance, “such diseases do not occur unless two genes for the disease are present, that is, a homozygous recessive pattern.” (Lippincott, 1999,p 150). There is a 25% risk of giving birth to an affected child with each pregnancy.
NF1 is a disorder requiring management by multiple disciplines; often these are coordinated through a primary care physician or a geneticist (Boyd, Horf & Theos 2009). However with new advances and the availability of genetically engineered mouse models for NF1 associated CNS pathology; it now becomes possible to foresee a pipeline in which fundamental basic science discoveries lead to the identification of new cellular and molecular targets for therapeutic drug design, culminating in preclinical evaluation before testing in patients with NF1 (Gutmann, Parada, Sila & Ratner 2012). In conclusion NF1 is a multisystem autosomal disorder affecting both adults and children with numbers of 1 in 3500. NF1 encodes for the protein neurofibromin which is a tumour suppressor that is expressed in multiple cells, primarily in neurons. Clinically, the most frequent manifestations are alterations of the skin pigmentation, iris Lisch nodules, and multiple benign neurofibromas.
It is caused by progressive deterioration of the anterior horn cells of the spinal cord. (Hockenberry & Wilson, 2007, p. 1) SMA is a genetic disease that affects primarily children. SMA is the “second most common…inherited disorder after cystic fibrosis”. One out of fourty people is a carrier of this recessive gene. SMA affects the a child’s muscular development,
He explains that between 1,940 and 1,965 mutations are associated with CF, and 127 of them have been positively linked to impaired CFTR function significant enough to produce CF symptoms. The most commonly cited pathologic mutation is designated AF508, and it occurs in 70% of whites with CF (Nakano & Tluczek, 2014). Nicholson (2013) explains that CF is an autosomal recessive disease that requires inheritance of two mutant chromosomes in order for an individual to express physical symptoms. Those inheriting only one mutant chromosome are designated carriers. In their article entitled “Update in Cystic Fibrosis 2013,” authors Jain and Goss (2013) stress clinical manifestations that include bronchiectasis, chronic sinusitis, idiopathic pancreatitis, chronic obstructive pulmonary disease, meconium ileus, and congenital bilateral absence of the vas
1. It is an auto immune disease where the immune system destroys the insulin-producing beta cells that are found in the pancreas. 2. Is accounted for 10 – 15 percent of people with this disease 3. any age can be diagnosed with this one but is common with people under the age of 40 4. set off by viruses diets and or chemicals that people take in B. According to Health Insite - Type 2 diabetes (previously known as non-insulin dependent diabetes) 1. one of the most common forms of diabetes – affected within 85 – 90 percent of people diagnosed with