The BCHE gene, also known as the pseudocholinesterase gene, plays a crucial role in the breakdown of certain chemicals in the body. This gene is responsible for encoding the enzyme pseudocholinesterase, which is involved in the metabolism and elimination of various drugs and toxins.
BCHE gene changes or variations can lead to pseudocholinesterase deficiency, a condition characterized by reduced sensitivity to certain drugs and an increased susceptibility to the effects of certain chemicals. This deficiency can affect an individual’s response to anesthesia and is associated with adverse reactions to certain medications.
There are several resources available that provide information on the BCHE gene and its role in various health conditions. Pubmed and OMIM are two scientific databases that catalog articles and provide information on genes and genetic testing. These databases list the BCHE gene and provide additional information on genetic changes and the effects of these changes on pseudocholinesterase activity.
Testing for BCHE gene variants and pseudocholinesterase deficiency can be conducted through specialized laboratories and genetic testing services. These tests can provide valuable information on an individual’s genetic makeup and their susceptibility to certain drugs and toxins. Additional information on BCHE gene testing can be found on the National Library of Medicine’s Genetic Testing Registry.
In conclusion, the BCHE gene plays a crucial role in the metabolism and elimination of certain drugs and toxins in the body. Changes in this gene can lead to pseudocholinesterase deficiency, which can have significant implications for an individual’s response to anesthesia and medication. Resources such as Pubmed, OMIM, and the Genetic Testing Registry provide valuable information on the BCHE gene and can assist in genetic testing and diagnosis of related health conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the BCHE gene can lead to various health conditions. Here are some of the conditions associated with these genetic changes:
Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.
- BCHE gene deficiency: Genetic changes in the BCHE gene can result in a deficiency of the enzyme pseudocholinesterase. This deficiency can affect the body’s sensitivity to certain drugs and anesthesia.
- Testing for BCHE gene changes: Genetic testing can be conducted to detect changes in the BCHE gene. These tests can help identify individuals who may be at risk for BCHE gene deficiency and guide appropriate medical care.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a online catalog of genetic diseases and their related genes. It provides comprehensive information on various genetic conditions, including those related to BCHE gene changes.
- Scientific articles and references: There are numerous scientific articles and references available on health conditions related to genetic changes in the BCHE gene. PubMed is a popular resource for accessing these articles and references.
- Additional resources: In addition to PubMed, there are other databases and resources that provide information on genetic changes in the BCHE gene and their associated health conditions. These resources can be helpful in conducting research and finding further information.
- Genetic changes and diseases: Genetic changes in the BCHE gene have been linked to various diseases, including but not limited to BCHE gene deficiency. Understanding these genetic changes can provide insights into the underlying mechanisms of these diseases.
- Variant registry: Variant registries are databases that collect and store information about different genetic variants. These registries can be useful in cataloging and understanding the impact of genetic changes in the BCHE gene on health conditions.
| Resource | Description |
| OMIM | Online catalog of genetic diseases and their related genes. |
| PubMed | Database of scientific articles and references. |
| Variant registry | Database storing information about different genetic variants. |
These resources and testing can provide valuable information on health conditions related to genetic changes in the BCHE gene. It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, testing, and management of these conditions.
Pseudocholinesterase deficiency
Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency or plasma cholinesterase deficiency, is a genetic condition characterized by reduced or absent levels of the BCHE gene product, called pseudocholinesterase or butyrylcholinesterase. Pseudocholinesterase is responsible for the breakdown of certain chemicals in the body, including the drug succinylcholine and other choline esters.
Individuals with pseudocholinesterase deficiency may experience adverse reactions to medications such as succinylcholine, which is commonly used during surgical procedures to relax muscles. These reactions can include prolonged paralysis, prolonged apnea (temporary cessation of breathing), and other complications.
Diagnosis of pseudocholinesterase deficiency can be confirmed through genetic testing, which can identify changes or mutations in the BCHE gene. There are several databases and resources available to clinicians and researchers for finding additional information on pseudocholinesterase deficiency, related genes, and associated diseases. These resources include the Online Mendelian Inheritance in Man (OMIM) database, which is a catalog of genes and genetic conditions, and PubMed, a database of scientific articles and references.
Genetic testing for pseudocholinesterase deficiency can be important for individuals considering surgery or other procedures that may involve the use of drugs metabolized by pseudocholinesterase. Testing can help identify individuals who may be at increased risk for adverse reactions and allow for appropriate precautions to be taken.
In addition to genetic testing, other laboratory tests may be used to assess pseudocholinesterase activity or sensitivity in the body. These tests can include the dibucaine number test and the fluoride test. However, it is important to note that these tests may not always be accurate indicators of pseudocholinesterase deficiency.
Management of pseudocholinesterase deficiency involves avoiding drugs metabolized by pseudocholinesterase whenever possible. In cases where drug use is necessary, such as during surgery, alternative medications or precautions may be taken to minimize the risk of adverse reactions.
Overall, pseudocholinesterase deficiency is a relatively rare condition, but it can have significant implications for individuals undergoing surgery or other procedures involving medications metabolized by pseudocholinesterase. Genetic testing and other diagnostic tools can help identify individuals at risk and guide appropriate medical management.
Other Names for This Gene
- Pseudocholinesterase
- Butyrylcholinesterase
- BCHE
The BCHE gene, also known as pseudocholinesterase or butyrylcholinesterase, is a gene that plays a crucial role in the breakdown and regulation of cholinesterase activity in the body. Cholinesterases are enzymes involved in the hydrolysis of the neurotransmitter acetylcholine, which is essential for proper nerve impulse transmission.
Deficiency or changes in the BCHE gene can result in pseudocholinesterase deficiency, a condition characterized by decreased or absent cholinesterase activity. This deficiency can lead to increased sensitivity to certain drugs and anesthetic agents, as well as other health conditions.
Scientific databases such as OMIM, PubMed, and the Genetic Testing Registry provide information on this gene, including articles, genetic testing resources, and additional references. These resources can be used to further understand the BCHE gene and its role in various diseases and conditions.
Additional Information Resources
For additional information on the BCHE gene, you can refer to the following resources:
- Online Databases: There are several online databases that provide information on genes and genetic diseases. These include the GeneTests database, which provides information on genetic testing for various conditions, including BCHE deficiency. Another useful database is the Online Mendelian Inheritance in Man (OMIM), which catalogs information on genes and genetic diseases.
- Scientific Articles: PubMed is a popular database for accessing scientific articles. You can search for articles related to the BCHE gene, BCHE deficiency, and other conditions associated with BCHE gene changes. PubMed provides abstracts and full-text articles for further reading.
- Genetic Testing: If you are interested in genetic testing for BCHE gene variants or BCHE deficiency, you can consult a genetic counselor or genetic testing laboratory. They can provide information on available tests and the sensitivity of these tests in detecting BCHE gene changes.
- Registry: The Pseudocholinesterase Registry is a database that collects information on individuals with pseudocholinesterase deficiency. This registry can provide valuable information on the condition, including related health articles and references.
Tests Listed in the Genetic Testing Registry
The following tests are listed in the Genetic Testing Registry (GTR) for the BCHE gene:
- Variant sensitivity testing
- Pseudocholinesterase deficiency test
These tests provide information on changes or variants in the BCHE gene that may be associated with pseudocholinesterase deficiency. They can help diagnose or determine the sensitivity to certain drugs.
Additional information on these tests, including their names and the conditions they are related to, can be found in scientific articles, PubMed, OMIM, and other scientific databases. These resources offer references, articles, and additional information on diseases and conditions related to pseudocholinesterase deficiency and other genetic conditions.
Genes, including the BCHE gene, play a significant role in the functioning of the body and can impact various health conditions. Testing for changes or variants in these genes can provide valuable information for diagnosis and treatment.
| Resource | Features |
|---|---|
| GTR | Listing of genetic tests |
| PubMed | Scientific articles |
| OMIM | Information on genetic diseases |
| Scientific catalogs | Epub and other articles |
In summary, genetic testing for the BCHE gene can provide insights into pseudocholinesterase deficiency and can help determine sensitivity to certain drugs. The GTR, PubMed, OMIM, and other scientific databases offer a wealth of information on these tests, as well as related genes and conditions.
Scientific Articles on PubMed
When researching the BCHE gene and its related genes, it is helpful to refer to scientific articles available on PubMed. PubMed is a widely-used online resource for accessing biomedical literature. Here, you can find a wealth of information on genes, genetic conditions, and diseases.
PubMed provides access to a vast collection of articles published in scientific journals. These articles contain valuable insights into the BCHE gene, its variant forms, and their implications for health. By searching with keywords like “BCHE gene,” “pseudocholinesterase deficiency,” or “genetic testing,” you can find relevant studies.
The articles listed on PubMed cover a wide range of topics related to the BCHE gene. They explore the genetic changes, sensitivity to certain drugs, and associated health conditions. The information provided in these articles can be invaluable for understanding the various aspects of this gene.
In addition to scientific articles, PubMed also includes information from other resources. These resources may include databases, registries, and catalogs that compile data on genes, genetic conditions, and related diseases. Such resources can help researchers and healthcare providers obtain comprehensive information.
When conducting research on the BCHE gene, it is important to cross-reference the information from scientific articles with the resources available on PubMed. This can ensure a more complete understanding of the gene and its potential implications for health.
For individuals with potential BCHE gene-related conditions or concerns, genetic testing is often recommended. Genetic testing can help identify specific changes or variants in the BCHE gene that may be associated with certain health conditions. These tests can provide additional information to healthcare providers and help guide appropriate medical interventions.
In summary, PubMed is a valuable resource for accessing scientific articles and other information on the BCHE gene. By utilizing the extensive database of articles, databases, and references available on PubMed, researchers and healthcare providers can obtain accurate and up-to-date information on this gene and its related conditions.
Catalog of Genes and Diseases from OMIM
The pseudocholinesterase deficiency gene, known as BCHE gene, is of great scientific interest due to its role in various genetic conditions. This gene is related to the pseudocholinesterase deficiency, which affects the body’s sensitivity to certain drugs.
This catalog provides a comprehensive list of genes and related diseases from OMIM, a valuable resource for genetic testing and research. The information in this catalog is compiled from various databases and resources, including OMIM, PubMed, and other scientific articles.
The genes listed in this catalog are important for understanding the genetic basis of different health conditions. For example, the BCHE gene variant is associated with pseudocholinesterase deficiency, which can cause increased sensitivity to certain drugs.
In addition to the BCHE gene, this catalog includes information on other genes and their variant changes. These genetic changes can contribute to several health conditions, such as neurological disorders, cardiovascular diseases, and metabolic disorders.
By referencing OMIM and PubMed, this catalog provides a wealth of information on the diseases associated with specific genes. This information can be crucial for genetic testing, diagnosis, and treatment of various conditions.
The catalog also includes a registry of genes and diseases, offering a comprehensive view of the genetic landscape. This registry is regularly updated with new information and findings from scientific research.
| Gene Name | Disease |
|---|---|
| BCHE | Pseudocholinesterase Deficiency |
| … | … |
This catalog serves as a valuable resource for researchers, clinicians, and individuals seeking information on genes, diseases, and their relationships. It facilitates the understanding of genetic conditions and aids in the development of targeted diagnostic tests and therapies.
Gene and Variant Databases
The BCHE gene and its variants can be found in various gene and variant databases. These databases serve as valuable resources for researchers and clinicians to access information related to the BCHE gene and its genetic changes.
Some of the commonly used databases include:
- PubMed: A scientific database that provides access to articles and references related to the BCHE gene and its variants.
- OMIM: The Online Mendelian Inheritance in Man database provides information on genetic diseases and conditions. It includes information on BCHE deficiency.
- Genetic Testing Registry (GTR): Maintained by the National Institutes of Health, GTR provides information on genetic tests and laboratories that offer BCHE testing.
- PubMed Central (PMC): An archive of biomedical and life sciences journal literature. It includes articles and references related to BCHE deficiency.
These databases can provide information on the BCHE gene, its variants, genetic testing, and related diseases. Researchers and clinicians can use these resources to access additional information, references, and tests for BCHE deficiency.
Furthermore, these databases can be useful for researchers and clinicians to stay updated on the latest scientific advancements and discoveries in the field of BCHE deficiency.
It is important to consult these databases for accurate and reliable information before making any clinical decisions or recommendations related to BCHE testing or deficiency.
References
- Body C. Worthington biochemical. Assay. Also known as the BCHE gene online resources. Available at: https://www.bodyc.com/bche-gene/.
- Pseudocholinesterase Deficiency. National Organization for Rare Disorders (NORD). Available at: https://rarediseases.org/rare-diseases/pseudocholinesterase-deficiency/.
- Pharmacogenetics – BCHE gene (butyrylcholinesterase): MedlinePlus Genetics. U.S. National Library of Medicine. Available at: https://medlineplus.gov/genetics/gene/bche/.
- Pseudocholinesterase deficiency (butyrylcholinesterase deficiency): Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/pseudocholinesterase-deficiency.
- BCHE – Butyrylcholinesterase precursor – Homo sapiens (Human) – BCHE gene & protein. Available at: https://www.uniprot.org/uniprot/P06276.
- Butyrylcholinesterase Deficiency. Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/diseases/6152/butyrylcholinesterase-deficiency.