Genetic Diseases

Down syndrome (trisomy 21) is a disorder associated with an error in the number of chromosomes present. Other examples of disorders associated with an error in the number of chromosomes are Trisomy 18 (Edwards Syndrome), Trisomy 13 (Patau Syndrome), Triple X syndrome, and Klinefelter Syndrome.

mutation in a single DNA base may have no effect on the phenotype or may have a great effect. the best example on this is sickle cell anaemia.

haemoglobin is formed of 2 alpha chains of protein and 2 beta chains, this is the beginning of the a.a sequence of beta chains: val-his-leu-thr-pro-glu-glu-lys

in some people, the mutation causes the substitution of a single thymine base with adenine. this causes one of the glutamine molecules with valine so the chain is this:

val-his-leu-thr-pro-val-glu-lys .

this very slight change causes the blood to form fibrous structures when it's not combined with oxygen. this causes many rbcs to be useless at transporting oxygen and the fibers may get stuck in capillaries which will prevent unaffected cells from getting through.

The Human Genome Project has greatly benefited mankind by providing a comprehensive DNA catalog, helping advance research in genetics and disease prevention. This project has allowed scientists to understand genetic variations and their role in various diseases, leading to advancements in personalized medicine and targeted treatments.

Most of the Klinefelter Syndrome affected persons can lead a life which could be considered as normal. However, they might have certain problems related to sexual organs, (among others), and some, - but not all -, could be infertile. The reason for this is their extra chromosome. Females have XX chromosomes, Males have XY chromosomes, and Klinefelter syndrome affected males have XXY chromosomes. They often are prescribed testosterone therapy. More info could be found on related links.

The can be analyzed to determine the sex of the individual and whether there are any chromosomal abnormalities.

The transactivation domain of p53 is responsible for activating the transcription of genes involved in cell cycle regulation, DNA repair, and apoptosis. It interacts with transcriptional coactivators and the basal transcription machinery to promote the expression of these genes in response to cellular stress or damage.

People with Klinefelter's syndrome (XXY) and Turner's syndrome (XO) can still have children through assisted reproductive technologies like in vitro fertilization. Additionally, many individuals with these syndromes may not be aware of their infertility at a young age when they may still have the opportunity to have children. These genetic conditions are also not always inherited, so they can arise independently in a population.

Some examples of somatic gene disorders include cancer (mutations in somatic cells leading to uncontrolled cell growth), cardiovascular diseases (genetic alterations affecting heart function), and neurodegenerative diseases (such as Alzheimer's and Parkinson's, caused by mutations in somatic cells).

The failure of replicated chromosomes to separate is called nondisjunction. This can lead to an abnormal number of chromosomes in daughter cells during cell division, which can result in genetic disorders such as Down syndrome.

Anemia is a broad disorder that literally translates as 'no blood'. In medical practice, anemia is a condition in which there are insufficient normal red blood cells to provide oxygen to the body tissues.

Anemia can be caused by a wide variety of things: large volume blood loss, infection, cancer and toxins can all result in various types of anemia.

There are also genetic causes of anemia. Two commonly discussed genetic anemias are sickle cell anemia and hemophilia-related anemia. Sickle cell anemia developed in Africa, where malaria parasites are common. A heterozygous individual has about 15% abnormal red blood cells that are crescent-shaped and don't transport oxygen well. Hemophilia was traced to a point mutation in the English royal line in the Middle Ages, which then spread throughout Europe via marriage among the royal houses. Hemophilia actually results in blood that does not clot properly, which can result in anemia due to chronic blood loss through hemorrhages.

Recessive is carried by both parents
In simplest terms, the disease is recessive, so two copies of the gene that cause it are necessary. Both parents have only one copy of the gene, so, they don't have it, but are carriers. A child gets half his or her genes from each parent. If the child gets the bad gene from each parent, the child will have the disease. There is a 25% chance of this happening with every child these parents have.

Two, net.

Sickle cell anemia is a genetic disorder that primarily occurs in African Americans. It is caused by a mutation in the gene that makes hemoglobin, resulting in abnormal red blood cells that can cause blockages in blood vessels and organ damage.

Met a family in a hospital waiting room with a family member with this disorder. I know very little:[ 1] Marfan syndrome is more commonly noted among a small subgroup of a certain type of exceptionally tall individuals.[2] It can "run in the family" so if it's in your family AND you are also exceptionally tall then you probably want to get yourself checked over by a special doctor that has had extra training about how to screen for Marfan syndrome as well as having had special training which focused on the latest research & additional knowledge about the specific way Marfan's syndrone affects people's body functions if they have it; [3] it is prudent to ask your own family doctor about Marfans syndrome first additionally then asking them about their own personal experience treating or diagnosing patients with this specific syndrome. (Some doctors may not be familiar with Marfans or only vaguely aware of what it is but unable to really provide specialized evaluation or treatment for it.) Best wishes.

It is called a peptide bond. It is formed by a condensation reaction (that is a reaction where water is produced). When two amino acids join a dipeptide is formed. A typical protein contains many thousands of amino acids all joined together by peptide bonds.

Klinefelter Syndrome is a genetic condition that occurs in males when they have an extra X chromosome. This can lead to infertility, reduced testicular size, and lower levels of testosterone. Some individuals may also experience developmental delays or learning disabilities. Early diagnosis and management can help address symptoms and improve quality of life.

It could happen in two main mechanisms: 1) the allele responsible for the disease is recessive and so each of the parents are healthy portators of the allele (heterozygous), and all the sons which are homozygous for the allele (i.e. have two copies of the allele), with a frequency of 1:4, will be affected by disease, but not the others (heterozygouses and homozygouses for the good allele or wild type). 2) the mutation responsible for the disease (that acts in a dominant manner) is not present in any of the parents but happens only during the formations of gametes, and so will be transmitted to the son. There are also other mechanisms that are less frequent and more difficult to explain in a few words.

Genetic diseases can affect any organ system in the body, including the nervous system, cardiovascular system, respiratory system, digestive system, endocrine system, musculoskeletal system, and immune system. Symptoms and severity of genetic diseases can vary depending on which organ system is impacted.

Carbon dioxide is produced as a byproduct of cellular respiration in organisms, including humans and animals. During respiration, glucose is broken down in the presence of oxygen to produce energy, water, and carbon dioxide.

Hungtington disease is a trinucleotide repeat genetic disorder, in which you have extra repeats of CAG in your gene coding for the hungtin protein. If you have more than 35 repeats you get the phenotype (symptoms), and it shows anticipation, which means that as the disease is passed on from generation to generation the repeats increase, hence the severity of the disease. It is quite rare, but the exact incidence is hard to estimate, because people carrying 30 repeats are asymptomatic. Hope this helps

A disease that you can transfer to your child by the DNA that you give.
It is a disease that is encoded into your DNA and some of your old family members may show it or some of your kids might show it too.

A parent can learn the risks of having a child with a genetic disorder by looking at their own history. A genetic disorder is... da da da da! Genetic! so the traits of this disorder would be passed down through the generations. If both parents have family members with the trait or if the disorder is a dominant trait then there is a high chance of the disorder being passed down to the child. If the trait is recessive and only one parent has the genetic disorder in their family history then there are some pretty low chances of it being passed along to the child. Even if the trait is recessive, if both parents have the diorder in their history then there is about a 50% chance of the child having the disorder.

In genetics, an offspring receives a gene from each parent for a particular trait (an allele). If the two alleles are for different characteristics, such as blue eyes and brown eyes, then usually one of the characteristics will show up in the offspring while the other is masked. The trait that shows up is the dominant gene.

That is hard to say because the frequency of Down syndrome if a function of maternal age so it is not fixed. A mom between 20 and 24 years old has a 1/ 1400 risk of having a child with Down syndrome. A mom who is 45 or older has a 1/25 risk.

Overall, it is fair to say Down syndrome is one of the most common and best known genetic disease.

Other genetic disease such as Cystic Fibrosis, hemochromatosis are also common.

The frequency of all these things varies in different populations as well as age.

So the question is quite hard to answer without isolating a specific population.