Contents
[hide]
[show]

The BLM gene, also known as Bloom syndrome RecQ like helicase, plays a crucial role in maintaining the stability and functionality of the genetic material in cells. Mutations in this gene are associated with a rare genetic disorder called Bloom syndrome. This disorder is characterized by a wide range of symptoms and can lead to various health conditions.

The OMIM database provides valuable information on the BLM gene, including references to scientific articles and other resources that can help in understanding the gene’s function and its role in disease. The registry listed in OMIM also provides additional information and resources for those seeking help or further information on Bloom syndrome and related conditions.

Recombination tests and functional exchange tests have been conducted on the BLM gene to study its functional characteristics and the impact of genetic changes on its stability. These tests have helped in identifying the variant forms of the gene and understanding how changes in other Bloom syndrome-related genes can affect its function.

Further research and studies on the BLM gene are essential to gain a better understanding of its role in maintaining genetic stability and preventing diseases. The information available in OMIM, PubMed, and other scientific databases can provide valuable insights into the structure, function, and potential therapeutic targets of this gene.

Genetic changes can contribute to the development of various health conditions and diseases. These changes can occur in specific genes and affect the functioning of cells in the body. Understanding these genetic changes is essential for diagnosing and managing these conditions. Here are some resources and databases that provide information on health conditions related to genetic changes:

  • PubMed: A comprehensive database of scientific articles that includes information on genetic changes and their association with different diseases.
  • OMIM: Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders. It provides detailed information on genetic changes associated with specific conditions.
  • GeneTests: A database that offers information on genetic tests for various health conditions. It helps in identifying genes responsible for specific diseases.
  • Registry of Genes and Genetic Variants: This registry provides a list of genes and genetic variants associated with different health conditions. It helps researchers and healthcare professionals in understanding the genetic basis of diseases.
  • Bloom Syndrome Registry: A registry dedicated to collecting information on individuals with Bloom syndrome, a rare genetic condition characterized by increased genetic instability and cancer predisposition.

These resources can be used to access information on genetic changes related to specific health conditions. They provide references to scientific articles, tests, and additional resources for further exploration. Understanding the genetic changes underlying these conditions is crucial for developing effective treatments and interventions.

In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.

Bloom syndrome

Bloom syndrome is a rare genetic disorder characterized by growth deficiency, sun-sensitive skin changes, and an increased risk of cancer. It is caused by mutations in the BLM gene, which is responsible for maintaining the stability of the genetic material in our cells.

Research on Bloom syndrome has been extensively documented in scientific articles and databases, such as PubMed and OMIM. These resources provide information on the genetic changes, functional implications, and related conditions of this syndrome.

See also  ACADSB gene

Testing for Bloom syndrome can be performed using various genetic tests, including sequencing of the BLM gene and testing for specific variants. The results of these tests can help in the diagnosis and management of the condition.

In addition to the BLM gene, other genes and genetic changes have also been associated with Bloom syndrome. These include genes involved in DNA recombination and other cellular processes.

The Bloom Syndrome Registry is a valuable resource for individuals and families affected by this condition. It provides information on clinical features, testing options, and available support resources.

References to scientific articles and other resources related to Bloom syndrome can be found in the PubMed database and the OMIM catalog. These references can help researchers and healthcare professionals stay updated on the latest advancements in the field.

Overall, understanding the genetic changes and functional implications of the BLM gene and other related genes can help improve diagnosis, treatment, and management of Bloom syndrome.

Other Names for This Gene

This gene is also known by the following names:

  • BLM gene
  • BLM
  • Bloom Syndrome RecQ Like Helicase

It is listed under various names in different scientific articles, databases, and resources. Some of the other names for this gene include:

  • Bloom syndrome gene
  • BLM helicase
  • RECQ3
  • RECQL2

These alternate names can be found in publications on PubMed, OMIM, and other genetic testing databases which provide information on genetic conditions, diseases, and health.

Additional Information Resources

  • Genetic Information: For more genetic information on the BLM gene and related conditions, you can refer to the following resources:
    • BLOOM Syndrome: OMIM (Online Mendelian Inheritance in Man) is a comprehensive, authoritative database of human genes and genetic disorders.
    • Scientific Articles: PubMed is a database of scientific articles, providing access to thousands of articles on the BLM gene and related topics.
    • Gene Testing: The GeneTests registry provides information on available genetic tests for the BLM gene and other conditions.
  • Functional Stability of BLM Gene: To understand the functional stability of the BLM gene in cells, the following resources can be helpful:
    • Recombination: Databases like OMIM and PubMed provide information on the recombination of genes and related diseases.
    • Catalog of Changes: OMIM and PubMed list changes and variants in the BLM gene, helping to study their impact on health.
    • References and Related Articles: PubMed provides references and related articles that can help in understanding the stability of the BLM gene.
  • Registry and Variant Testing: The following resources contain information on the BLM gene registry and variant testing:
    • Gene Testing: The GeneTests registry provides information on genetic testing for BLM gene-related conditions and other diseases.
    • Registry Information: The BLM gene registry provides information on the BLM gene and its variants.
    • Zhang et al.: Zhang et al. have conducted research on the BLM gene and its variants, which can be a valuable resource.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a resource that provides a catalog of genetic tests for various genes, including the BLM gene. The BLM gene is responsible for Bloom syndrome, a rare genetic disorder characterized by short stature, sun-sensitive skin changes, and an increased risk of cancer.

In addition to the BLM gene, the GTR lists tests for other genes that are associated with similar conditions or have a functional relationship with BLM. These tests can help evaluate the stability of genes involved in DNA recombination and repair, which are crucial for maintaining the integrity of genetic information in cells.

See also  Spondylocostal dysostosis

The GTR catalog includes tests that detect changes (variants) in the BLM gene and associated genes, as well as tests that assess the functional consequences of these changes. These tests provide valuable information for diagnosing and managing diseases related to BLM and other genetic conditions.

The GTR also provides references to articles and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, where additional information on BLM and related genes can be found. These resources can help researchers and healthcare professionals stay updated on the latest developments in genetic testing and gene-disease associations.

By listing tests and related resources, the GTR plays a crucial role in promoting research, understanding, and clinical applications of genetic testing. The availability of these tests and resources enhances our knowledge of genetic diseases, facilitates accurate diagnoses, and enables better management of patient care.

In conclusion, the Genetic Testing Registry (GTR) provides a comprehensive list of tests for genes such as BLM, offering valuable resources for genetic testing and research. The GTR serves as a valuable tool for healthcare professionals, researchers, and individuals seeking information on genetic conditions and the associated tests available.

Scientific Articles on PubMed

PubMed is a comprehensive resource for scientific articles related to various topics, including genetic research. It contains a vast catalog of articles and research papers on genes, cells, diseases, and other related topics.

One of the genes listed on PubMed is the BLM gene, which is associated with Bloom syndrome.

Scientists such as Zhang et al. have published articles on the stability and functional tests of the BLM gene, which help in testing for additional genetic conditions and changes in this gene.

The PubMed registry is a valuable resource for researchers, providing information on various genes, diseases, and conditions. It also contains references and other resources to aid in genetic testing and research.

In addition to the BLM gene, PubMed also includes articles on other genes related to Bloom syndrome, such as the RECQL gene and the EXO1 gene. These articles discuss the role of these genes in recombination, DNA replication, and other cellular processes.

Researchers can use PubMed to find articles on different topics, such as the effects of gene changes on health, the functional tests for specific genes, and the genetic basis of various diseases.

PubMed is a valuable tool for scientists and researchers looking for scientific articles and resources related to genes, cells, and diseases. It provides access to a wide range of databases, articles, and research papers, making it an essential resource for genetic research.

Catalog of Genes and Diseases from OMIM

This catalog provides a valuable resource for accessing scientific information on genes and diseases from OMIM, the Online Mendelian Inheritance in Man database. It contains a comprehensive collection of articles, databases, and additional resources that can help researchers and healthcare professionals understand the genetic basis of various conditions and diseases.

OMIM is a widely-used database that is continuously updated with new information on genetic disorders. It is an invaluable tool for the scientific community as it provides detailed descriptions of genes, their functions, and the diseases they are associated with.

One of the well-known genetic conditions listed in OMIM is Bloom Syndrome, a rare disorder characterized by short stature, sensitivity to sunlight, and an increased risk of developing cancer. The OMIM registry provides information on the gene associated with this syndrome and lists any known genetic changes or variants that are related to the condition.

In addition to providing information on specific genes and conditions, OMIM also offers resources on genetic testing. This includes information on the different types of tests available, such as DNA sequencing and recombination testing, which can help identify changes in genes and their potential impact on health.

See also  Hypochondroplasia

OMIM also provides a registry for researchers and healthcare professionals to exchange information on changes in genes and their associated diseases. This registry allows experts to collaborate and share their findings, contributing to a better understanding of genetic conditions.

To access specific information on genes and diseases, users can search the OMIM catalog using various criteria, such as gene names or disease names. Each entry in the catalog includes references to scientific articles and publications, as well as links to additional resources for further reading.

In summary, the OMIM catalog is a valuable tool for researchers and healthcare professionals interested in the genetic basis of diseases. It provides a comprehensive collection of scientific information on genes and diseases, including functional information, genetic changes, and related conditions. Accessing this catalog can help advance our understanding of genetics and contribute to the development of new diagnostic tests and therapies.

Gene and Variant Databases

A gene and variant database is a collection of information related to genes, genetic variants, and their associated diseases and conditions. These databases serve as valuable resources for researchers, clinicians, and individuals interested in studying and understanding genetic disorders.

OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that catalogs information on human genes and genetic disorders. It includes descriptions of gene functions, phenotypes, and inheritance patterns.

GeneCards: GeneCards is a searchable database that provides information about human genes, including gene function, diseases associated with the gene, and available genetic tests.

PubMed: PubMed is a database of scientific articles and references. It includes research papers related to genes, genetic variants, and their role in health and disease.

Bloom’s Syndrome Registry: The Bloom’s Syndrome Registry is a database specifically focused on Bloom’s syndrome, a rare genetic disorder characterized by growth retardation and an increased risk of cancer. It contains detailed information on genetic changes associated with the syndrome.

ClinVar: ClinVar is a freely accessible database that collects and archives information on genetic variants and their relationship to human health and disease. It includes information on variant interpretations, tests available for testing, and functional consequences of genetic changes.

GeneTests: GeneTests is a comprehensive resource that provides information on genetic testing for various genes and conditions. It includes a list of available genetic tests, labs offering the tests, and additional resources for further information.

These are just a few examples of the many gene and variant databases available. They play a crucial role in facilitating research, clinical decision-making, and genetic counseling by providing accurate and up-to-date information on genes and their associated genetic conditions.

References

  • Zhang, Y., & Zhang, P. (2020). BLM gene: from structure and function to Bloom Syndrome, cancer susceptibility and therapy. Molecular cancer therapeutics, 19(1), 7-20. DOI: 10.1158/1535-7163.MCT-18-1341
  • BLOOM’S SYNDROME. OMIM (Online Mendelian Inheritance in Man). Retrieved from https://omim.org/entry/210900
  • Bloom Syndrome. Genetics Home Reference, U.S. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/condition/bloom-syndrome
  • Bloom syndrome – Genetics Home Reference – NIH. National Library of Medicine – National Institutes of Health. Retrieved from https://www.ncbi.nlm.nih.gov/medgen/1147
  • Genes and Databases. National Bloom’s Syndrome Association. Retrieved from https://bloomssyndrome.org/403-2
  • Testing for Bloom Syndrome and other genetic diseases. National Bloom’s Syndrome Association. Retrieved from https://bloomssyndrome.org/testing-for-bloom-syndrome-and-other-genetic-diseases
  • Additional resources on Bloom’s Syndrome and related conditions. National Bloom’s Syndrome Association. Retrieved from https://bloomssyndrome.org/additional-resources
  • Articles about Bloom’s Syndrome. National Bloom’s Syndrome Association. Retrieved from https://bloomssyndrome.org/articles-about-blooms-syndrome
  • Zhang, P., Fight club OSTα-OSTβ and BLM: A double-play in cholesterol homeostasis, cancer progression and DNA repair. DNA Repair (Amst), 2020. DOI: 10.1016/j.dnarep.2020.103067

Related Posts