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Several different mutations can cause the same genetic disease due to the redundancy and complexity of genetic coding. Multiple mutations can occur in the same gene, affecting its function in various ways, such as altering protein structure, disrupting regulation, or leading to premature stop signals. Additionally, mutations in different genes that interact within the same biological pathway can also result in similar disease phenotypes. This genetic variability highlights the diverse mechanisms through which diseases can manifest despite differing underlying mutations.
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What type of mutation cause glaucoma?
Glaucoma is associated with mutations in several different genes: MYOC, ASB10, WDR36, NTF4, TBK1, OPA1 and OPTN. But most cases of glaucoma do not involve any genetic mutations.
Which disease could possibly be prevented through genetic testing?
Several diseases can potentially be prevented through genetic testing, including certain hereditary cancers such as breast and ovarian cancer linked to BRCA1 and BRCA2 mutations. Identifying these mutations allows individuals to make informed decisions about preventive measures, such as increased surveillance or prophylactic surgeries. Additionally, genetic testing can help in assessing the risk of conditions like cystic fibrosis and sickle cell disease, enabling early interventions and management strategies.
What type of genetic disorder is muscular dystrophy?
Muscular dystrophy is a genetic disorder that causes progressive weakening and deterioration of the muscles. It results from mutations in genes responsible for the structure and function of muscle fibers. There are several types of muscular dystrophy, each with specific genetic causes and patterns of muscle weakness.
What are three effects of nucleotide substitution?
Nucleotide substitution can lead to several effects, including missense mutations, where a different amino acid is incorporated into a protein, potentially altering its function. It can also result in nonsense mutations, causing premature termination of protein synthesis, which often leads to nonfunctional proteins. Additionally, silent mutations may occur, where the substitution does not change the amino acid sequence due to the redundancy of the genetic code, often having little to no effect on the organism.
What are three reasons mutation can occur in cells?
Mutations can occur in cells due to several factors, including errors during DNA replication, which can lead to incorrect nucleotide incorporation. Environmental influences, such as exposure to radiation or chemicals, can also damage DNA and result in mutations. Additionally, biological processes like viral infections or the action of mobile genetic elements can introduce changes to the genetic material.
Is maple syrup urine disease cause by a mutation?
Yes, there are several different mutations that can cause it.
Which chromosome does Lou Gehrig s Disease occur on?
Lou Gehrig's Disease, also known as Amyotrophic Lateral Sclerosis (ALS), is primarily associated with mutations in the SOD1 gene, which is located on chromosome 21. However, ALS can also be linked to mutations in several other genes that may be found on different chromosomes, including C9orf72 on chromosome 9 and FUS on chromosome 16. The disease can have both genetic and sporadic forms, with various genetic factors involved.
What are the different types of sickle cell disease and how do they differ from each other?
There are several types of sickle cell disease, including sickle cell anemia, sickle beta thalassemia, and sickle cell-hemoglobin C disease. These types differ based on the specific genetic mutations that affect the hemoglobin protein in red blood cells. Sickle cell anemia is the most common and severe form, where individuals have two copies of the sickle cell gene. Sickle beta thalassemia and sickle cell-hemoglobin C disease are milder forms that result from different combinations of genetic mutations. Symptoms and complications can vary among the different types of sickle cell disease.
What type of mutation cause glaucoma?
Glaucoma is associated with mutations in several different genes: MYOC, ASB10, WDR36, NTF4, TBK1, OPA1 and OPTN. But most cases of glaucoma do not involve any genetic mutations.
What is a cause of a genetic disease?
What is a genetic disease?A genetic disease is any disease that is caused by an abnormality in an individual's genome. The abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosome abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Some genetic disorders are inherited from the parents, while other genetic diseases are caused by acquired changes or mutations in a preexisting gene or group of genes. Mutations occur either randomly or due to some environmental exposure. What are the different types of inheritance?There are a number of different types of genetic inheritance, including the following four modes: Single gene inheritanceSingle gene inheritance, also called Mendelian or monogenetic inheritance. This type of inheritance is caused by changes or mutations that occur in the DNA sequence of a single gene. There are more than 6,000 known single-gene disorders, which occur in about 1 out of every 200 births. These disorders are known as monogenetic disorders (disorders of a single age). Some examples of monogenetic disorders include:cystic fibrosis,sickle cell anemia,Marfan syndrome,Huntington's disease, andhemochromatosis.
Which disease could possibly be prevented through genetic testing?
Several diseases can potentially be prevented through genetic testing, including certain hereditary cancers such as breast and ovarian cancer linked to BRCA1 and BRCA2 mutations. Identifying these mutations allows individuals to make informed decisions about preventive measures, such as increased surveillance or prophylactic surgeries. Additionally, genetic testing can help in assessing the risk of conditions like cystic fibrosis and sickle cell disease, enabling early interventions and management strategies.
Name two major types of mutations What do they have in common How are they different Give an example of each?
Gene and chromosomal; both change DNA sequence that affects genetic information. Gene mutations involve a change in one ore several nucleotides in a single gene, whereas chromosomal mutations involve changes in the number or structure of whole chromosomes
What are the three human genetic disorders?
I don't know a lot but I know that any eye color besides brown is a mutation. I also know that red heads who don't have redheaded parents are mutated. Basically everyone has small mutations like that.
What are the factors that can cause breast cancer?
Several factors can contribute to the development of breast cancer, including genetic mutations, family history of the disease, hormonal factors, lifestyle choices such as alcohol consumption and lack of physical activity, and exposure to certain environmental factors like radiation.
What are the various kinds of mutations?
Mutations differ and change according to many factors: 1- Site of occurrence: -Genetic mutations -Chromosomal mutations 2- The inheritance: -Somatic mutations -Gamete mutations 3- The origin: -Spontaneous (natural) mutations -Induced mutations 4- The harmful OR useful effects: -Undesirable mutations -Desirable mutations
What is a spontaneous change that occurs in genetic material?
There are several. Some examples are: point mutations, crossovers, recombinations, translocations, deletions, errors in the repair process, telomere shortening, etc.
What is the genetic trace of 'CHARGE' syndrome?
Charge syndrome is genetic. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. This syndrome is a common cause of congenital anomalies affecting several tissues in nonrandom fashion. Some research has been shown that detected mutations are in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome that didn't have microdeletions, accounting for the disease in most affected individuals.
