Molecular Sequence Data
Polymerase Chain Reaction
Amino Acid Sequence
Gene Knockout Techniques
In Situ Hybridization, Fluorescence
Genetic Complementation Test
Saccharomyces cerevisiae Proteins
Promoter Regions, Genetic
Gene Expression Regulation, Fungal
Sequence Analysis, DNA
Chromosomes, Human, Pair 9
Gene Expression Regulation, Bacterial
Chromosomes, Human, Pair 17
Gene Expression Regulation
Comparative Genomic Hybridization
Metabolic Networks and Pathways
Nucleic Acid Hybridization
Sequence Homology, Amino Acid
Disease Models, Animal
Chromosomes, Human, Pair 22
Polymorphism, Restriction Fragment Length
Polymorphism, Single-Stranded Conformational
Neuronal Apoptosis-Inhibitory Protein
Reverse Transcriptase Polymerase Chain Reaction
Cyclin-Dependent Kinase Inhibitor p16
Protein Structure, Tertiary
Recombinant Fusion Proteins
Repetitive Sequences, Nucleic Acid
Chromosomes, Human, Pair 7
Genes, Tumor Suppressor
22q11 Deletion Syndrome
DNA Restriction Enzymes
Loss of Heterozygosity
Cyclin-Dependent Kinase Inhibitor p15
DNA Transposable Elements
Open Reading Frames
Sequence Homology, Nucleic Acid
Muscular Dystrophy, Duchenne
DNA Copy Number Variations
Gene Expression Profiling
Chromosomes, Human, Pair 1
Oligonucleotide Array Sequence Analysis
Tumor Suppressor Proteins
Survival of Motor Neuron 1 Protein
Genetic Predisposition to Disease
Green Fluorescent Proteins
SMN Complex Proteins
Chromosomes, Artificial, Bacterial
Adrenal Hyperplasia, Congenital
Deoxyribonucleases, Type II Site-Specific
Chromosomes, Human, X
Muscular Atrophy, Spinal
Gene Expression Regulation, Enzymologic
The role of RBF in the introduction of G1 regulation during Drosophila embryogenesis. (1/19725)The first appearance of G1 during Drosophila embryogenesis, at cell cycle 17, is accompanied by the down-regulation of E2F-dependent transcription. Mutant alleles of rbf were generated and analyzed to determine the role of RBF in this process. Embryos lacking both maternal and zygotic RBF products show constitutive expression of PCNA and RNR2, two E2F-regulated genes, indicating that RBF is required for their transcriptional repression. Despite the ubiquitous expression of E2F target genes, most epidermal cells enter G1 normally. Rather than pausing in G1 until the appropriate time for cell cycle progression, many of these cells enter an ectopic S-phase. These results indicate that the repression of E2F target genes by RBF is necessary for the maintenance but not the initiation of a G1 phase. The phenotype of RBF-deficient embryos suggests that rbf has a function that is complementary to the roles of dacapo and fizzy-related in the introduction of G1 during Drosophila embryogenesis. (+info)
Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression. (2/19725)The analysis of a number of cases of beta-globin thalassemia and hereditary persistence of fetal hemoglobin (HPFH) due to large deletions in the beta-globin locus has led to the identification of several DNA elements that have been implicated in the switch from human fetal gamma- to adult beta-globin gene expression. We have tested this hypothesis for an element that covers the minimal distance between the thalassemia and HPFH deletions and is thought to be responsible for the difference between a deletion HPFH and deltabeta-thalassemia, located 5' of the delta-globin gene. This element has been deleted from a yeast artificial chromosome (YAC) containing the complete human beta-globin locus. Analysis of this modified YAC in transgenic mice shows that early embryonic expression is unaffected, but in the fetal liver it is subject to position effects. In addition, the efficiency of transcription of the beta-globin gene is decreased, but the developmental silencing of the gamma-globin genes is unaffected by the deletion. These results show that the deleted element is involved in the activation of the beta-globin gene perhaps through the loss of a structural function required for gene activation by long-range interactions. (+info)
Deletion of multiple immediate-early genes from herpes simplex virus reduces cytotoxicity and permits long-term gene expression in neurons. (3/19725)Herpes simplex virus type 1 (HSV-1) has many attractive features that suggest its utility for gene transfer to neurons. However, viral cytotoxicity and transient transgene expression limit practical applications even in the absence of viral replication. Mutant viruses deleted for the immediate early (IE) gene, ICP4, an essential transcriptional transactivator, are toxic to many cell types in culture in which only the remaining IE genes are expressed. In order to test directly the toxicity of other IE gene products in neurons and develop a mutant background capable of longterm transgene expression, we generated mutants deleted for multiple IE genes in various combinations and tested their relative cytotoxicity in 9L rat gliosarcoma cells, Vero monkey kidney cells, and primary rat cortical and dorsal root neurons in culture. Viral mutants deleted simultaneously for the IE genes encoding ICP4, ICP22 and ICP27 showed substantially reduced cytotoxicity compared with viruses deleted for ICP4 alone or ICP4 in combination with either ICP22, ICP27 or ICP47. Infection of neurons in culture with these triple IE deletion mutants substantially enhanced cell survival and permitted transgene expression for over 21 days. Such mutants may prove useful for efficient gene transfer and extended transgene expression in neurons in vitro and in vivo. (+info)
Downregulation of metallothionein-IIA expression occurs at immortalization. (4/19725)Metallothioneins (MTs) may modulate a variety of cellular processes by regulating the activity of zinc-binding proteins. These proteins have been implicated in cell growth regulation, and their expression is abnormal in some tumors. In particular, MT-IIA is expressed 27-fold less in human colorectal tumors and tumor cell lines compared with normal tissue (Zhang et al., 1997). Here we demonstrate that MT-IIA downregulation occurs when human cells become immortal, a key event in tumorigenesis. After immortalization MT-IIA expression remains inducible but the basal activity of the MT-IIA promoter is decreased. MT-IIA downregulation at immortalization is one of the most common immortalization-related changes identified to date, suggesting that MT-IIA has a role in this process. (+info)
p73 at chromosome 1p36.3 is lost in advanced stage neuroblastoma but its mutation is infrequent. (5/19725)p73, a novel p53 family member, is a recently identified candidate neuroblastoma (NBL) suppressor gene mapped at chromosome 1p36.33 and was found to inhibit growth and induce apoptosis in cell lines. To test the hypothesis that p73 is a NBL suppressor gene, we analysed the p73 gene in primary human NBLs. Loss of heterozygosity (LOH) for p73 was observed in 19% (28/151) of informative cases which included 92 mass-screening (MS) tumors. The high frequency of p73 LOH was significantly associated with sporadic NBLs (9% vs 34%, P<0.001), N-myc amplification (10% vs 71%, P<0.001), and advanced stage (14% vs 28%, P<0.05). Both p73alpha and p73beta transcripts were detectable in only 46 of 134 (34%) NBLs at low levels by RT-PCR methods, while they were easily detectable in most breast cancers and colorectal cancers under the same conditions. They found no correlation between p73 LOH and its expression levels (P>0.1). We found two mutations out of 140 NBLs, one somatic and one germline, which result in amino acid substitutions in the C-terminal region of p73 which may affect transactivation functions, though, in the same tumor samples, no mutation of the p53 gene was observed as reported previously. These results suggest that allelic loss of the p73 gene may be a later event in NBL tumorigenesis. However, p73 is infrequently mutated in primary NBLs and may hardly function as a tumor suppressor in a classic Knudson's manner. (+info)
A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. (6/19725)Microdeletions of chromosome 22q11 are the most common genetic defects associated with cardiac and craniofacial anomalies in humans. A screen for mouse genes dependent on dHAND, a transcription factor implicated in neural crest development, identified Ufd1, which maps to human 22q11 and encodes a protein involved in degradation of ubiquitinated proteins. Mouse Ufd1 was specifically expressed in most tissues affected in patients with 22q11 deletion syndrome. The human UFD1L gene was deleted in all 182 patients studied with 22q11 deletion, and a smaller deletion of approximately 20 kilobases that removed exons 1 to 3 of UFD1L was found in one individual with features typical of 22q11 deletion syndrome. These data suggest that UFD1L haploinsufficiency contributes to the congenital heart and craniofacial defects seen in 22q11 deletion. (+info)
Pyrin/marenostrin mutations in familial Mediterranean fever. (7/19725)Familial Mediterranean fever (FMF) is an inherited inflammatory disease that is frequently complicated by reactive systemic (AA) amyloidosis. It is principally recognized in certain Mediterranean populations, and the diagnosis depends on clinical features. Four mutations strongly linked to FMF have lately been identified in a gene encoding a novel protein that has been named pyrin or marenostrin. We studied 27 consecutive patients of varied ethnic origin, including an English man, who had classical, probable or possible FMF. Pyrin/marenostrin genotypes were determined, and AA amyloidosis was sought using serum amyloid P component scintigraphy. Among the 23 patients with classical or probable FMF, 17 were homozygotes or compound heterozygotes for pyrin/marenostrin mutations, and in five, only single allele mutations were identified. Two new mutations, T6811 and delta M694, were discovered in addition to the four described previously. No mutations were identified in three of the four patients with possible FMF. Nine patients had AA amyloidosis, but this association was not restricted to any particular genotype. Most patients with FMF have mutations in both pyrin/marenostrin alleles, and genotyping at this locus is a valuable diagnostic test. Unidentified second mutations are likely to occur in FMF patients who have apparently solitary mutations, and therefore genotype results must be interpreted in conjunction with the clinical picture. (+info)
Mutations and allelic deletions of the MEN1 gene are associated with a subset of sporadic endocrine pancreatic and neuroendocrine tumors and not restricted to foregut neoplasms. (8/19725)Endocrine pancreatic tumors (EPT) and neuroendocrine tumors (NET) occur sporadically and rarely in association with multiple endocrine neoplasia type 1 (MEN1). We analyzed the frequency of allelic deletions and mutations of the recently identified MEN1 gene in 53 sporadic tumors including 30 EPT and 23 NET (carcinoids) of different locations and types. Allelic deletion of the MEN1 locus was identified in 18/49 (36.7%) tumors (13/30, 43.3% in EPT and 5/19, 26.3% in NET) and mutations of the MEN1 gene were present in 8/52 (15.3%) tumors (4/30 (13.3%) EPT and 4/22 (18.1%) NET). The somatic mutations were clustered in the 5' region of the coding sequence and most frequently encompassed missense mutations. All tumors with mutations exhibited a loss of the other allele and a wild-type sequence of the MEN1 gene in nontumorous DNA. In one additional patient with a NET of the lung and no clinical signs or history of MEN1, a 5178-9G-->A splice donor site mutation in intron 4 was identified in both the tumor and blood DNA, indicating the presence of a thus far unknown MEN1 syndrome. In most tumor groups the frequency of allelic deletions at 11q13 was 2 to 3 times higher than the frequency of identified MEN1 gene mutations. Some tumor types, including rare forms of EPT and NET of the duodenum and small intestine, exhibited mutations more frequently than other types. Furthermore, somatic mutations were not restricted to foregut tumors but were also detectable in a midgut tumor (15.2% versus 16.6%). Our data indicate that somatic MEN1 gene mutations contribute to a subset of sporadic EPT and NET, including midgut tumors. Because the frequency of mutations varies significantly among the investigated tumor subgroups and allelic deletions are 2 to 3 times more frequently observed, factors other than MEN1 gene inactivation, including other tumor-suppressor genes on 11q13, may also be involved in the tumorigenesis of these neoplasms. (+info)
Some common effects of chromosomal deletions include:
1. Genetic disorders: Chromosomal deletions can lead to a variety of genetic disorders, such as Down syndrome, which is caused by a deletion of a portion of chromosome 21. Other examples include Prader-Willi syndrome (deletion of chromosome 15), and Williams syndrome (deletion of chromosome 7).
2. Birth defects: Chromosomal deletions can increase the risk of birth defects, such as heart defects, cleft palate, and limb abnormalities.
3. Developmental delays: Children with chromosomal deletions may experience developmental delays, learning disabilities, and intellectual disability.
4. Increased cancer risk: Some chromosomal deletions can increase the risk of developing certain types of cancer, such as chronic myelogenous leukemia (CML) and breast cancer.
5. Reproductive problems: Chromosomal deletions can lead to reproductive problems, such as infertility or recurrent miscarriage.
Chromosomal deletions can be diagnosed through a variety of techniques, including karyotyping (examination of the chromosomes), fluorescence in situ hybridization (FISH), and microarray analysis. Treatment options for chromosomal deletions depend on the specific effects of the deletion and may include medication, surgery, or other forms of therapy.
Examples of syndromes include:
1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.
Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.
Delta-Thalassemia is classified into two main types: delta-plus-thalassemia and delta-beta-thalassemia. Delta-plus-thalassemia is the more severe form of the disorder and is characterized by a complete absence of delta-globin chain production, resulting in severe anemia and often death before the age of two. Delta-beta-thalassemia is a milder form of the disorder and is characterized by reduced production of delta-globin chains, which can lead to mild anemia or no anemia at all.
Delta-Thalassemia is inherited in an autosomal recessive pattern, meaning that a child must inherit two copies of the mutated HBB gene (one from each parent) to develop the disorder. Carriers of the disorder, who have one normal copy of the HBB gene and one mutated copy, are generally asymptomatic but can pass the mutated gene to their children.
There is currently no cure for delta-Thalassemia, but treatment options include blood transfusions, folic acid supplements, and bone marrow transplantation. The prognosis for patients with delta-Thalassemia depends on the severity of the disorder and can vary from mild to severe.
Some examples of multiple abnormalities include:
1. Multiple chronic conditions: An individual may have multiple chronic conditions such as diabetes, hypertension, arthritis, and heart disease, which can affect their quality of life and increase their risk of complications.
2. Congenital anomalies: Some individuals may be born with multiple physical abnormalities or birth defects, such as heart defects, limb abnormalities, or facial deformities.
3. Mental health disorders: Individuals may experience multiple mental health disorders, such as depression, anxiety, and bipolar disorder, which can impact their cognitive functioning and daily life.
4. Neurological conditions: Some individuals may have multiple neurological conditions, such as epilepsy, Parkinson's disease, and stroke, which can affect their cognitive and physical functioning.
5. Genetic disorders: Individuals with genetic disorders, such as Down syndrome or Turner syndrome, may experience a range of physical and developmental abnormalities.
The term "multiple abnormalities" is often used in medical research and clinical practice to describe individuals who have complex health needs and require comprehensive care. It is important for healthcare providers to recognize and address the multiple needs of these individuals to improve their overall health outcomes.
There are various causes of intellectual disability, including:
1. Genetic disorders, such as Down syndrome, Fragile X syndrome, and Turner syndrome.
2. Congenital conditions, such as microcephaly and hydrocephalus.
3. Brain injuries, such as traumatic brain injury or hypoxic-ischemic injury.
4. Infections, such as meningitis or encephalitis.
5. Nutritional deficiencies, such as iron deficiency or iodine deficiency.
Intellectual disability can result in a range of cognitive and functional impairments, including:
1. Delayed language development and difficulty with communication.
2. Difficulty with social interactions and adapting to new situations.
3. Limited problem-solving skills and difficulty with abstract thinking.
4. Slow learning and memory difficulties.
5. Difficulty with fine motor skills and coordination.
There is no cure for intellectual disability, but early identification and intervention can significantly improve outcomes. Treatment options may include:
1. Special education programs tailored to the individual's needs.
2. Behavioral therapies, such as applied behavior analysis (ABA) and positive behavior support (PBS).
3. Speech and language therapy.
4. Occupational therapy to improve daily living skills.
5. Medications to manage associated behaviors or symptoms.
It is essential to recognize that intellectual disability is a lifelong condition, but with appropriate support and resources, individuals with ID can lead fulfilling lives and reach their full potential.
There are several types of muscular dystrophies, including:
1. Duchenne muscular dystrophy (DMD): This is the most common form of muscular dystrophy, affecting males primarily. It is caused by a mutation in the dystrophin gene and is characterized by progressive muscle weakness, wheelchair dependence, and shortened lifespan.
2. Becker muscular dystrophy (BMD): This is a less severe form of muscular dystrophy than DMD, affecting both males and females. It is caused by a mutation in the dystrophin gene and is characterized by progressive muscle weakness, but with a milder course than DMD.
3. Limb-girdle muscular dystrophy (LGMD): This is a group of disorders that affect the muscles around the shoulders and hips, leading to progressive weakness and degeneration. There are several subtypes of LGMD, each with different symptoms and courses.
4. Facioscapulohumeral muscular dystrophy (FSHD): This is a rare form of muscular dystrophy that affects the muscles of the face, shoulder, and upper arm. It is caused by a mutation in the D4Z4 repeat on chromosome 4.
5. Myotonic dystrophy: This is the most common adult-onset form of muscular dystrophy, affecting both males and females. It is characterized by progressive muscle stiffness, weakness, and wasting, as well as other symptoms such as cataracts, myotonia, and cognitive impairment.
There is currently no cure for muscular dystrophies, but various treatments are available to manage the symptoms and slow the progression of the disease. These include physical therapy, orthotics and assistive devices, medications to manage pain and other symptoms, and in some cases, surgery. Researchers are actively working to develop new treatments and a cure for muscular dystrophies, including gene therapy, stem cell therapy, and small molecule therapies.
It's important to note that muscular dystrophy can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the specific type of dystrophy. This means that the risk of inheriting the condition depends on the mode of inheritance and the presence of mutations in specific genes.
In summary, muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness and degeneration. There are several types of muscular dystrophy, each with different symptoms and courses. While there is currently no cure for muscular dystrophy, various treatments are available to manage the symptoms and slow the progression of the disease. Researchers are actively working to develop new treatments and a cure for muscular dystrophy.
1) They share similarities with humans: Many animal species share similar biological and physiological characteristics with humans, making them useful for studying human diseases. For example, mice and rats are often used to study diseases such as diabetes, heart disease, and cancer because they have similar metabolic and cardiovascular systems to humans.
2) They can be genetically manipulated: Animal disease models can be genetically engineered to develop specific diseases or to model human genetic disorders. This allows researchers to study the progression of the disease and test potential treatments in a controlled environment.
3) They can be used to test drugs and therapies: Before new drugs or therapies are tested in humans, they are often first tested in animal models of disease. This allows researchers to assess the safety and efficacy of the treatment before moving on to human clinical trials.
4) They can provide insights into disease mechanisms: Studying disease models in animals can provide valuable insights into the underlying mechanisms of a particular disease. This information can then be used to develop new treatments or improve existing ones.
5) Reduces the need for human testing: Using animal disease models reduces the need for human testing, which can be time-consuming, expensive, and ethically challenging. However, it is important to note that animal models are not perfect substitutes for human subjects, and results obtained from animal studies may not always translate to humans.
6) They can be used to study infectious diseases: Animal disease models can be used to study infectious diseases such as HIV, TB, and malaria. These models allow researchers to understand how the disease is transmitted, how it progresses, and how it responds to treatment.
7) They can be used to study complex diseases: Animal disease models can be used to study complex diseases such as cancer, diabetes, and heart disease. These models allow researchers to understand the underlying mechanisms of the disease and test potential treatments.
8) They are cost-effective: Animal disease models are often less expensive than human clinical trials, making them a cost-effective way to conduct research.
9) They can be used to study drug delivery: Animal disease models can be used to study drug delivery and pharmacokinetics, which is important for developing new drugs and drug delivery systems.
10) They can be used to study aging: Animal disease models can be used to study the aging process and age-related diseases such as Alzheimer's and Parkinson's. This allows researchers to understand how aging contributes to disease and develop potential treatments.
There are several types of chromosome aberrations, including:
1. Chromosomal deletions: Loss of a portion of a chromosome.
2. Chromosomal duplications: Extra copies of a chromosome or a portion of a chromosome.
3. Chromosomal translocations: A change in the position of a chromosome or a portion of a chromosome.
4. Chromosomal inversions: A reversal of a segment of a chromosome.
5. Chromosomal amplifications: An increase in the number of copies of a particular chromosome or gene.
Chromosome aberrations can be detected through various techniques, such as karyotyping, fluorescence in situ hybridization (FISH), or array comparative genomic hybridization (aCGH). These tests can help identify changes in the chromosomal makeup of cells and provide information about the underlying genetic causes of disease.
Chromosome aberrations are associated with a wide range of diseases, including:
1. Cancer: Chromosome abnormalities are common in cancer cells and can contribute to the development and progression of cancer.
2. Birth defects: Many birth defects are caused by chromosome abnormalities, such as Down syndrome (trisomy 21), which is caused by an extra copy of chromosome 21.
3. Neurological disorders: Chromosome aberrations have been linked to various neurological disorders, including autism and intellectual disability.
4. Immunodeficiency diseases: Some immunodeficiency diseases, such as X-linked severe combined immunodeficiency (SCID), are caused by chromosome abnormalities.
5. Infectious diseases: Chromosome aberrations can increase the risk of infection with certain viruses, such as human immunodeficiency virus (HIV).
6. Ageing: Chromosome aberrations have been linked to the ageing process and may contribute to the development of age-related diseases.
7. Radiation exposure: Exposure to radiation can cause chromosome abnormalities, which can increase the risk of cancer and other diseases.
8. Genetic disorders: Many genetic disorders are caused by chromosome aberrations, such as Turner syndrome (45,X), which is caused by a missing X chromosome.
9. Rare diseases: Chromosome aberrations can cause rare diseases, such as Klinefelter syndrome (47,XXY), which is caused by an extra copy of the X chromosome.
10. Infertility: Chromosome abnormalities can contribute to infertility in both men and women.
Understanding the causes and consequences of chromosome aberrations is important for developing effective treatments and improving human health.
There are two main types of thalassemia: alpha-thalassemia and beta-thalassemia. Alpha-thalassemia is caused by abnormalities in the production of the alpha-globin chain, which is one of the two chains that make up hemoglobin. Beta-thalassemia is caused by abnormalities in the production of the beta-globin chain.
Thalassemia can cause a range of symptoms, including anemia, fatigue, pale skin, and shortness of breath. In severe cases, it can lead to life-threatening complications such as heart failure, liver failure, and bone deformities. Thalassemia is usually diagnosed through blood tests that measure the levels of hemoglobin and other proteins in the blood.
There is no cure for thalassemia, but treatment can help manage the symptoms and prevent complications. Treatment may include blood transfusions, folic acid supplements, and medications to reduce the severity of anemia. In some cases, bone marrow transplantation may be recommended.
Preventive measures for thalassemia include genetic counseling and testing for individuals who are at risk of inheriting the disorder. Prenatal testing is also available for pregnant women who are carriers of the disorder. In addition, individuals with thalassemia should avoid marriage within their own family or community to reduce the risk of passing on the disorder to their children.
Overall, thalassemia is a serious and inherited blood disorder that can have significant health implications if left untreated. However, with proper treatment and management, individuals with thalassemia can lead fulfilling lives and minimize the risk of complications.
There are two main forms of alpha-Thalassemia:
1. Alpha-thalassemia major (also known as Hemoglobin Bart's hydrops fetalis): This is a severe form of the disorder that can cause severe anemia, enlarged spleen, and death in infancy. It is caused by a complete absence of one or both of the HBA1 or HBA2 genes.
2. Alpha-thalassemia minor (also known as Hemoglobin carrier state): This form of the disorder is milder and may not cause any symptoms at all. It is caused by a partial deletion of one or both of the HBA1 or HBA2 genes.
People with alpha-thalassemia minor may have slightly lower levels of hemoglobin and may be more susceptible to anemia, but they do not typically experience any severe symptoms. Those with alpha-thalassemia major, on the other hand, are at risk for serious complications such as anemia, infections, and organ failure.
There is no cure for alpha-thalassemia, but treatment options include blood transfusions, iron chelation therapy, and management of associated complications. Screening for alpha-thalassemia is recommended for individuals who are carriers of the disorder, as well as for those who have a family history of the condition.
Some common types of eye abnormalities include:
1. Refractive errors: These are errors in the way the eye focuses light, causing blurry vision. Examples include myopia (nearsightedness), hyperopia (farsightedness), astigmatism, and presbyopia (age-related loss of near vision).
2. Amblyopia: This is a condition where the brain favors one eye over the other, causing poor vision in the weaker eye.
3. Cataracts: A cataract is a clouding of the lens in the eye that can cause blurry vision and increase the risk of glaucoma.
4. Glaucoma: This is a group of eye conditions that can damage the optic nerve and lead to vision loss.
5. Macular degeneration: This is a condition where the macula, the part of the retina responsible for central vision, deteriorates, leading to vision loss.
6. Diabetic retinopathy: This is a complication of diabetes that can damage the blood vessels in the retina and lead to vision loss.
7. Retinal detachment: This is a condition where the retina becomes separated from the underlying tissue, leading to vision loss.
8. Corneal abnormalities: These are irregularities in the shape or structure of the cornea, such as keratoconus, that can cause blurry vision.
9. Optic nerve disorders: These are conditions that affect the optic nerve, such as optic neuritis, that can cause vision loss.
10. Traumatic eye injuries: These are injuries to the eye or surrounding tissue that can cause vision loss or other eye abnormalities.
Eye abnormalities can be diagnosed through a comprehensive eye exam, which may include visual acuity tests, refraction tests, and imaging tests such as retinal photography or optical coherence tomography (OCT). Treatment for eye abnormalities depends on the specific condition and may include glasses or contact lenses, medication, surgery, or other therapies.
There are many different types of chromosome disorders, including:
1. Trisomy: This is a condition in which there is an extra copy of a chromosome. For example, Down syndrome is caused by an extra copy of chromosome 21.
2. Monosomy: This is a condition in which there is a missing copy of a chromosome.
3. Turner syndrome: This is a condition in which there is only one X chromosome instead of two.
4. Klinefelter syndrome: This is a condition in which there are three X chromosomes instead of the typical two.
5. Chromosomal translocations: These are abnormalities in which a piece of one chromosome breaks off and attaches to another chromosome.
6. Inversions: These are abnormalities in which a segment of a chromosome is reversed end-to-end.
7. Deletions: These are abnormalities in which a portion of a chromosome is missing.
8. Duplications: These are abnormalities in which there is an extra copy of a segment of a chromosome.
Chromosome disorders can have a wide range of effects on the body, depending on the type and severity of the condition. Some common features of chromosome disorders include developmental delays, intellectual disability, growth problems, and physical abnormalities such as heart defects or facial anomalies.
There is no cure for chromosome disorders, but treatment and support are available to help manage the symptoms and improve the quality of life for individuals with these conditions. Treatment may include medications, therapies, and surgery, as well as support and resources for families and caregivers.
Preventive measures for chromosome disorders are not currently available, but research is ongoing to understand the causes of these conditions and to develop new treatments and interventions. Early detection and diagnosis can help identify chromosome disorders and provide appropriate support and resources for individuals and families.
In conclusion, chromosome disorders are a group of genetic conditions that affect the structure or number of chromosomes in an individual's cells. These conditions can have a wide range of effects on the body, and there is no cure, but treatment and support are available to help manage symptoms and improve quality of life. Early detection and diagnosis are important for identifying chromosome disorders and providing appropriate support and resources for individuals and families.
The symptoms of 22q11 Deletion Syndrome can vary in severity and may include:
* Heart defects, such as Tetralogy of Fallot or Pulmonary atresia
* Craniofacial abnormalities, such as a small head, narrow eyes, and a flat nose bridge
* Developmental delays and learning disabilities
* Speech and language difficulties
* Behavioral and psychiatric issues, such as anxiety and depression
* Other physical anomalies, such as hearing loss or vision problems
22q11 Deletion Syndrome is usually diagnosed through chromosomal microarray analysis (CMA) or fluorescence in situ hybridization (FISH). Treatment for the syndrome typically involves a multidisciplinary approach, including management of heart defects, speech and language therapy, and behavioral interventions. With appropriate support and care, individuals with 22q11 Deletion Syndrome can lead fulfilling lives.
Some of the key features that distinguish 22q11 Deletion Syndrome from other genetic disorders include:
* The specific location of the deletion on chromosome 22q11
* The range of congenital anomalies and developmental delays present in affected individuals
* The potential for complex behavioral and psychiatric issues
Understanding the definition of 22q11 Deletion Syndrome is important for healthcare professionals, as it can help inform diagnosis and treatment decisions for individuals with this condition. Additionally, awareness of this syndrome can help families and caregivers better understand and support affected individuals.
* Delayed growth and short stature
* Broad forehead
* Long, narrow face with a wide mouth and full lips
* Wide-set eyes that are often blue or green
* Low-set ears
* Curly or wavy hair
* Intellectual disability or cognitive impairment
* Delayed speech and language development
* Difficulty with fine motor skills and hand-eye coordination
* Poor musical ability
* Friendly and outgoing personality
* High level of empathy and compassion for others
* Excellent social skills
* Love of music and dance
* Curiosity and playfulness
Causes and Inheritance:
Williams syndrome is caused by a deletion of genetic material from chromosome 7, specifically the q11.23 region. This deletion occurs spontaneously, without a known family history or environmental trigger. The disorder is not inherited in a Mendelian pattern, meaning that it does not follow traditional patterns of inheritance.
Williams syndrome can be diagnosed through a combination of physical and developmental assessments, as well as genetic testing. Physical features such as broad foreheads and wide mouths are often present at birth, while developmental delays and cognitive impairments may not become apparent until later in childhood. Genetic testing can confirm the diagnosis by identifying the deletion of genetic material on chromosome 7.
Treatment and Management:
There is no cure for Williams syndrome, but early intervention and specialized management can help individuals with the disorder reach their full potential. Treatment may include:
* Physical therapy to improve fine motor skills and coordination
* Speech and language therapy to improve communication skills
* Occupational therapy to develop daily living skills
* Special education programs tailored to individual needs
* Medications to manage cardiovascular problems, hypertension, and sleep disorders
The prognosis for individuals with Williams syndrome varies depending on the severity of the symptoms. Some individuals may experience significant developmental delays and cognitive impairments, while others may have fewer or no symptoms. With early intervention and specialized management, many individuals with Williams syndrome can lead fulfilling lives and achieve their full potential.
Williams syndrome is not inherited in a Mendelian pattern, meaning that it does not follow traditional patterns of inheritance. The disorder is caused by a spontaneous deletion of genetic material on chromosome 7, and there is no known family history or environmental trigger. Each child of an individual with Williams syndrome has a 50% chance of inheriting the deletion and developing the disorder.
Prenatal testing for Williams syndrome is available but not routine. The test is typically offered to pregnant women who have a family history of the disorder or who have had a previous child with Williams syndrome. Prenatal testing involves analyzing cells from the developing fetus, usually through chorionic villus sampling (CVS) or amniocentesis.
Genetic counseling is essential for individuals and families affected by Williams syndrome. A genetic counselor can provide information on the inheritance pattern of the disorder, discuss prenatal testing options, and offer guidance on managing the condition. Genetic counseling can also help families understand the risks and benefits of genetic testing and make informed decisions about their reproductive options.
In conclusion, Williams syndrome is a rare genetic disorder that affects approximately 1 in 10,000 individuals worldwide. It is caused by a spontaneous deletion of genetic material on chromosome 7 and is characterized by developmental delays, cognitive impairments, and cardiovascular problems. Early intervention and specialized management can significantly improve the prognosis for individuals with Williams syndrome. Prenatal testing and genetic counseling are available for families who have a risk of inheriting the disorder. With proper care and support, individuals with Williams syndrome can lead fulfilling lives and achieve their full potential.
The symptoms of DMD typically become apparent in early childhood and progress rapidly. They include:
* Delayed motor development
* Weakness and wasting of muscles, particularly in the legs and pelvis
* Muscle weakness that worsens over time
* Loss of muscle mass and fatigue
* Difficulty walking, running, or standing
* Heart problems, such as cardiomyopathy and arrhythmias
* Respiratory difficulties, such as breathing problems and pneumonia
DMD is diagnosed through a combination of clinical evaluation, muscle biopsy, and genetic testing. Treatment options are limited and focus on managing symptoms and improving quality of life. These may include:
* Physical therapy to maintain muscle strength and function
* Medications to manage pain, spasms, and other symptoms
* Assistive devices, such as braces and wheelchairs, to improve mobility and independence
* Respiratory support, such as ventilation assistance, to manage breathing difficulties
The progression of DMD is highly variable, with some individuals experiencing a more rapid decline in muscle function than others. The average life expectancy for individuals with DMD is approximately 25-30 years, although some may live into their 40s or 50s with appropriate medical care and support.
Duchenne muscular dystrophy is a devastating and debilitating condition that affects thousands of individuals worldwide. While there is currently no cure for the disorder, ongoing research and advancements in gene therapy and other treatments offer hope for improving the lives of those affected by DMD.
Symptoms of an extra-adrenal paraganglioma may include high blood pressure, palpitations, sweating, headaches, and weight loss. The exact cause of this condition is not known, but genetics may play a role in some cases. Treatment options vary depending on the location and size of the tumor, but they often involve surgery to remove the affected tissue.
The primary symptoms of DiGeorge syndrome include:
1. Cleft palate or other congenital facial abnormalities
2. Heart defects, such as Tetralogy of Fallot
3. Developmental delays and learning disabilities
4. Speech difficulties
5. Hearing loss
6. Vision problems
7. Immune system dysfunction
8. Thyroid gland abnormalities
9. Kidney and urinary tract defects
10. Increased risk of infections
DiGeorge syndrome is caused by a genetic mutation that occurs sporadically, meaning it is not inherited from either parent. The condition is usually diagnosed during infancy or early childhood, based on the presence of distinctive physical features and developmental delays. Treatment for DiGeorge syndrome typically involves managing the associated symptoms and developmental delays through a combination of medical interventions, therapies, and special education. With appropriate support and care, individuals with DiGeorge syndrome can lead fulfilling lives, although they may require ongoing medical attention throughout their lives.
Explanation: Genetic predisposition to disease is influenced by multiple factors, including the presence of inherited genetic mutations or variations, environmental factors, and lifestyle choices. The likelihood of developing a particular disease can be increased by inherited genetic mutations that affect the functioning of specific genes or biological pathways. For example, inherited mutations in the BRCA1 and BRCA2 genes increase the risk of developing breast and ovarian cancer.
The expression of genetic predisposition to disease can vary widely, and not all individuals with a genetic predisposition will develop the disease. Additionally, many factors can influence the likelihood of developing a particular disease, such as environmental exposures, lifestyle choices, and other health conditions.
Inheritance patterns: Genetic predisposition to disease can be inherited in an autosomal dominant, autosomal recessive, or multifactorial pattern, depending on the specific disease and the genetic mutations involved. Autosomal dominant inheritance means that a single copy of the mutated gene is enough to cause the disease, while autosomal recessive inheritance requires two copies of the mutated gene. Multifactorial inheritance involves multiple genes and environmental factors contributing to the development of the disease.
Examples of diseases with a known genetic predisposition:
1. Huntington's disease: An autosomal dominant disorder caused by an expansion of a CAG repeat in the Huntingtin gene, leading to progressive neurodegeneration and cognitive decline.
2. Cystic fibrosis: An autosomal recessive disorder caused by mutations in the CFTR gene, leading to respiratory and digestive problems.
3. BRCA1/2-related breast and ovarian cancer: An inherited increased risk of developing breast and ovarian cancer due to mutations in the BRCA1 or BRCA2 genes.
4. Sickle cell anemia: An autosomal recessive disorder caused by a point mutation in the HBB gene, leading to defective hemoglobin production and red blood cell sickling.
5. Type 1 diabetes: An autoimmune disease caused by a combination of genetic and environmental factors, including multiple genes in the HLA complex.
Understanding the genetic basis of disease can help with early detection, prevention, and treatment. For example, genetic testing can identify individuals who are at risk for certain diseases, allowing for earlier intervention and preventive measures. Additionally, understanding the genetic basis of a disease can inform the development of targeted therapies and personalized medicine."
Symptoms of ichthyosis can include:
* Thickened, scaly skin on the arms, legs, back, and chest
* Redness and itching
* Cracking and splitting of the skin
* Increased risk of infection
* Respiratory problems
Treatment for ichthyosis typically involves the use of topical creams and ointments to help soften and hydrate the skin, as well as oral medications to reduce inflammation and itching. In severe cases, phototherapy or systemic corticosteroids may be necessary.
In addition to these medical treatments, there are also several home remedies and lifestyle modifications that can help manage the symptoms of ichthyosis. These include:
* Moisturizing regularly with a fragrance-free moisturizer
* Avoiding harsh soaps and cleansers
* Using lukewarm water when showering or bathing
* Applying cool compresses to the skin to reduce redness and inflammation
* Wearing loose, breathable clothing to avoid irritating the skin
* Protecting the skin from extreme temperatures and environmental stressors.
There are three main forms of ACH:
1. Classic congenital adrenal hyperplasia (CAH): This is the most common form of ACH, accounting for about 90% of cases. It is caused by mutations in the CYP21 gene, which codes for an enzyme that converts cholesterol into cortisol and aldosterone.
2. Non-classic CAH (NCAH): This form of ACH is less common than classic CAH and is caused by mutations in other genes involved in cortisol and aldosterone production.
3. Mineralocorticoid excess (MOE) or glucocorticoid deficiency (GD): These are rare forms of ACH that are characterized by excessive production of mineralocorticoids (such as aldosterone) or a deficiency of glucocorticoids (such as cortisol).
The symptoms of ACH can vary depending on the specific form of the disorder and the age at which it is diagnosed. In classic CAH, symptoms typically appear in infancy and may include:
* Premature puberty (in girls) or delayed puberty (in boys)
* Abnormal growth patterns
* Distended abdomen
* Weight gain or obesity
* Easy bruising or bleeding
In NCAH and MOE/GD, symptoms may be less severe or may not appear until later in childhood or adulthood. They may include:
* High blood pressure
* Low blood sugar (hypoglycemia)
* Weight gain or obesity
* Mood changes
If left untreated, ACH can lead to serious complications, including:
* Adrenal gland insufficiency
* Heart problems
* Bone health problems
* Increased risk of infections
* Mental health issues (such as depression or anxiety)
Treatment for ACH typically involves hormone replacement therapy to restore the balance of hormones in the body. This may involve taking medications such as cortisol, aldosterone, or other hormones to replace those that are deficient or imbalanced. In some cases, surgery may be necessary to remove an adrenal tumor or to correct physical abnormalities.
With proper treatment, many individuals with ACH can lead healthy, active lives. However, it is important for individuals with ACH to work closely with their healthcare providers to manage their condition and prevent complications. This may involve regular check-ups, hormone level monitoring, and lifestyle changes such as a healthy diet and regular exercise.
https://www.medicinenet.com › Medical Dictionary › G
A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.
Genetic Translocation | Definition & Facts | Britannica
https://www.britannica.com › science › Genetic-tr...
Genetic translocation, also called chromosomal translocation, a type of chromosomal aberration in which a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material. Genetic translocations are often found in cancer cells and may play a role in the development and progression of cancer.
Translocation, Genetic | health Encyclopedia - UPMC
https://www.upmc.com › health-library › gene...
A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.
Genetic Translocation | Genetics Home Reference - NIH
https://ghr.nlm.nih.gov › condition › ge...
A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.
In conclusion, Genetic Translocation is an abnormality in the number or arrangement of chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome, resulting in a gain or loss of genetic material that can have significant effects on the individual.
Symptoms of hemophilia B can include prolonged bleeding after an injury or surgery, easy bruising, and frequent nosebleeds. Treatment typically involves infusing the patient with factor IX to replace the deficient protein and promote blood clotting. Regular injections of factor IX may be necessary to prevent bleeding episodes.
Hemophilia B is relatively rare, affecting approximately 1 in 25,000 males in the United States. It can be diagnosed through a series of blood tests that measure the levels of factor IX and other clotting factors in the blood. Preventative measures such as avoiding contact sports and receiving regular infusions of factor IX can help manage the condition and prevent complications.
In severe cases, hemophilia B can lead to joint damage, internal bleeding, and even death if left untreated. However, with proper medical care and management, most people with hemophilia B can lead active and relatively normal lives.
There are different types of SMA, ranging from mild to severe, with varying degrees of muscle wasting and weakness. The condition typically becomes apparent during infancy or childhood and can progress rapidly or slowly over time. Symptoms may include muscle weakness, spinal curvature (scoliosis), respiratory problems, and difficulty swallowing.
SMA is caused by a defect in the Survival Motor Neuron 1 (SMN1) gene, which is responsible for producing a protein that protects motor neurons from degeneration. The disorder is usually inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the defective gene - one from each parent - to develop the condition.
There is currently no cure for SMA, but various treatments are available to manage its symptoms and slow its progression. These may include physical therapy, occupational therapy, bracing, and medications to improve muscle strength and function. In some cases, stem cell therapy or gene therapy may be considered as potential treatment options.
Prognosis for SMA varies depending on the type and severity of the condition, but it is generally poor for those with the most severe forms of the disorder. However, with appropriate management and support, many individuals with SMA can lead fulfilling lives and achieve their goals despite physical limitations.
The symptoms of ASF are varied and can include:
* High fever
* Loss of appetite
* Weakness and lethargy
* Reduced productivity and milk production in breeding pigs
* Hemorrhages and skin lesions, which can be severe and fatal.
ASF is transmitted through direct contact with infected animals or contaminated objects, such as meat products, animal feed, or farming equipment. The virus can also be spread by flies, ticks, and other insects that have fed on infected pigs.
There is no specific treatment for ASF, and control measures are largely focused on preventing the spread of the disease. These include:
* Implementing strict biosecurity measures, such as isolating infected animals, disinfecting equipment and facilities, and using protective clothing and gear.
* Vaccination of pigs, which can help reduce the severity of symptoms and prevent the spread of the disease.
* Culling of infected animals to prevent the spread of the disease and minimize economic losses.
* Implementing trade restrictions and surveillance programs to prevent the spread of ASF to other countries.
ASF has significant economic and social impacts on affected communities, particularly in Africa where it is a major threat to food security and livelihoods. The disease has also had significant impacts on global pork supplies, leading to increased prices and trade restrictions.
Male infertility can be caused by a variety of factors, including:
1. Low sperm count or poor sperm quality: This is one of the most common causes of male infertility. Sperm count is typically considered low if less than 15 million sperm are present in a sample of semen. Additionally, sperm must be of good quality to fertilize an egg successfully.
2. Varicocele: This is a swelling of the veins in the scrotum that can affect sperm production and quality.
3. Erectile dysfunction: Difficulty achieving or maintaining an erection can make it difficult to conceive.
4. Premature ejaculation: This can make it difficult for the sperm to reach the egg during sexual intercourse.
5. Blockages or obstructions: Blockages in the reproductive tract, such as a blockage of the epididymis or vas deferens, can prevent sperm from leaving the body during ejaculation.
6. Retrograde ejaculation: This is a condition in which semen is released into the bladder instead of being expelled through the penis during ejaculation.
7. Hormonal imbalances: Imbalances in hormones such as testosterone and inhibin can affect sperm production and quality.
8. Medical conditions: Certain medical conditions, such as diabetes, hypogonadism, and hyperthyroidism, can affect fertility.
9. Lifestyle factors: Factors such as smoking, excessive alcohol consumption, and stress can all impact fertility.
10. Age: Male fertility declines with age, especially after the age of 40.
There are several treatment options for male infertility, including:
1. Medications to improve sperm count and quality
2. Surgery to repair blockages or obstructions in the reproductive tract
3. Artificial insemination (IUI) or in vitro fertilization (IVF) to increase the chances of conception
4. Donor sperm
5. Assisted reproductive technology (ART) such as ICSI (intracytoplasmic sperm injection)
6. Hormone therapy to improve fertility
7. Lifestyle changes such as quitting smoking and alcohol, losing weight, and reducing stress.
It's important to note that male infertility is a common condition and there are many treatment options available. If you're experiencing difficulty conceiving, it's important to speak with a healthcare provider to determine the cause of infertility and discuss potential treatment options.
When a chromosome breaks, it can lead to genetic instability and potentially contribute to the development of diseases such as cancer. Chromosome breakage can also result in the loss or gain of genetic material, which can further disrupt normal cellular function and increase the risk of disease.
There are several types of chromosome breakage, including:
1. Chromosomal aberrations: These occur when there is a change in the number or structure of the chromosomes, such as an extra copy of a chromosome (aneuploidy) or a break in a chromosome.
2. Genomic instability: This refers to the presence of errors in the genetic material that can lead to changes in the function of cells and tissues.
3. Chromosomal fragile sites: These are specific regions of the chromosomes that are more prone to breakage than other regions.
4. Telomere shortening: Telomeres are the protective caps at the ends of the chromosomes, and their shortening can lead to chromosome breakage and genetic instability.
Chromosome breakage can be detected through cytogenetic analysis, which involves staining the cells with dyes to visualize the chromosomes and look for any abnormalities. The detection of chromosome breakage can help diagnose certain diseases, such as cancer, and can also provide information about the risk of disease progression.
In summary, chromosome breakage is a type of genetic alteration that can occur as a result of various factors, including exposure to radiation or chemicals, errors during cell division, or aging. It can lead to genetic instability and increase the risk of diseases such as cancer. Detection of chromosome breakage through cytogenetic analysis can help diagnose certain diseases and provide information about the risk of disease progression.
22q11.2 distal deletion syndrome
22q13 deletion syndrome
13q deletion syndrome
Yeast deletion project
60S ribosomal protein L13
Epoxide hydrolase 2
9q34.3 deletion syndrome
Multiple system atrophy
Sex determination in Silene
Very long-chain acyl-CoA synthetase
Federal Radio Commission
List of diseases (C)
Congenital mirror movement disorder
Westlake station (Sound Transit)
Browsing by Subject "Gene Deletion"
King's College London - Genetic consortium discover gene deletion that increases risk of schizophrenia
09/02/2022: Lab Alert: MPXV TNF Receptor Gene Deletion May Lead to False Negative Results with Some MPXV Specific LDTs
Table 2 - Plasmodium falciparum pfhrp2 and pfhrp3 Gene Deletions in Malaria-Hyperendemic Region, South Sudan - Volume 29,...
Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional...
Deletion of the OPA1 gene in a family with dominant optic atrophy: evidence that haploinsufficiency is the cause of disease<...
Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA...
A Strong Deletion Bias in Nonallelic Gene Conv... | proLékárníky.cz
INDUCIBLE GENE DELETION BY CRE RECOMBINASE TRANSDUCTION - Augusta University Research Profiles
SHANK3 gene: MedlinePlus Genetics
CRISPR Vectors for Deletion of Human PKD2 Genes - PKD Research Resource Consortium
JCI - Volume 93, Issue 3
Lkb1 regulates cell cycle and energy metabolism in haematopoietic stem cells
Deletion of the nucleotide excision repair gene Ercc1 reduces immunoglobulin class switching and alters mutations near switch...
A Corynebacterium glutamicum mutant with a defined deletion within the rpIK gene is impaired in (p)ppGpp accumulation upon...
Characterisation of a new alpha thalassemia 1 defect due to a partial deletion of the alpha globin gene complex. - MRC...
CLINICAL POLYMORPHISMS AND APPROACHES OF ARRHYTHMIAS TREATMENT IN A FAMILY WITH P.DELKPQ1505-1507 DELETION IN SCN5A GENE -...
An analysis of possible off target effects following CAS9/CRISPR targeted deletions of neuropeptide gene enhancers from the...
Full length deep sequencing of South African hepatitis B virus isolates reveals increased viral diversity and X-gene deletions...
Deletion analysis of Streptococcus pneumoniae late competence genes distinguishes virulence determinants that are dependent or...
Protein S Deficiency: Practice Essentials, Pathophysiology, Etiology
Differential bacterial capture and transport preferences facilitate co-growth on dietary xylan in the human gut | Nature...
Microorganisms | Free Full-Text | Genomic Characterization of Salmonella Typhimurium Isolated from Guinea Pigs with...
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Chemical Approaches to Eliminate Fungal Contamination and Mycotoxin Production in Plant Products | National Agricultural Library
Duchenne and Becker Muscular Dystrophy: Contribution of a Molecular and Immunohistochemical Analysis in Diagnosis in Morocco
- In primates, the deletion bias is considerably stronger for long indels and, in both lineages, the per-site rate of gene conversion is orders of magnitudes higher than that of ordinary mutation. (prolekarniky.cz)
- The sequences of related DNA segments can diverge via ordinary mutation or converge via gene conversion. (prolekarniky.cz)
- A benefit of this approach is that it assumes nothing about the process or biases of ordinary mutation, because an ancestral length difference between paralogs can be caused by either an insertion or a deletion. (prolekarniky.cz)
- Analysis of liver and muscle specimens from one of the deceased infants in this family revealed compound heterozygosity for the paternal point mutation and maternal intragenic deletion. (bvsalud.org)
- The fetus was found to carry both the point mutation and the deletion. (bvsalud.org)
- The aim of the study was to analyze spectrum of manifestation and treatment response in large family with rhythm disturbances caused by p.delKPQ1505-1507 mutation in SCN5A gene. (spr-journal.ru)
- Mutation screening in SCN5A gene was performed using bidirectional Sanger sequencing. (spr-journal.ru)
- Here by we show the observation of Iranian family with known mutation p.delKPQ 1505-1507 in SCN5A gene, who display not only LQ-TS phenotype but also some of the carriers of this mutation have had LQ-TS and Brugada syndrome (combine phenotype), interestingly. (spr-journal.ru)
- Evidence for arterial thrombosis in other hereditary thrombophilias (eg, protein C deficiency, antithrombin III deficiency, or factor V Leiden gene mutation) also appears to be minimal. (medscape.com)
- Patients with VHL disease have an increased risk of developing renal cysts and bilateral, multifocal solid or cystic clear cell renal cell carcinomas (ccRCCs), in which the wild-type VHL allele is invariably lost due to somatic mutation or gene silencing. (lww.com)
- This particular mutation leads to failure of one of the polymerase chain reaction (PCR) targets (sometimes called S-gene target failure (SGTF)) when the virus is tested with assays that include an S gene target, including the Thermo Fisher Scientific TaqPath™ COVID-19 Combo Kit diagnostic assay 4 . (cdc.gov)
- This disease, previously referred to as MCKD type 1, is due to a mutation in the variable-number tandem repeat region of the MUC1 (Mucin 1) gene. (medscape.com)
- Thymidine kinase 2 (TK2), encoded by the TK2 gene on chromosome 16q22, is one of the deoxyribonucleoside kinases responsible for the maintenance of mitochondrial deoxyribonucleotide pools. (bvsalud.org)
- Sequence analysis confirmed that the deletion spans c.1-495 to c.283-2899 of the TK2 gene ( nucleotide 65,136,256-65,142,086 of chromosome 16 ). (bvsalud.org)
- The characteristic signs and symptoms of 22q13.3 deletion syndrome, which is also commonly known as Phelan-McDermid syndrome, are caused by a deletion near the end of the long (q) arm of chromosome 22. (medlineplus.gov)
- The locus at chromosome 1q21 was identified by linkage mapping in 1998, but the gene has only recently been discovered due to difficulty with sequencing this highly repetitive region and was previously missed using next-generation sequencing. (medscape.com)
- Here, we investigate insertions and deletions produced by nonallelic gene conversion in 338 Drosophila and 10,149 primate paralogs. (prolekarniky.cz)
- Using a direct phylogenetic approach, we identify 179 insertions and 614 deletions in Drosophila paralogs, and 132 insertions and 455 deletions in primate paralogs. (prolekarniky.cz)
- Thus, nonallelic gene conversion is strongly deletion-biased in both lineages, with almost 3.5 times as many conversion-induced deletions as insertions. (prolekarniky.cz)
- A phylogenetic approach for detecting insertions and deletions produced by nonallelic gene conversion. (prolekarniky.cz)
- Overall, these assays and approaches detect specific mutations or features such as insertions, deletions and point mutations in the SARS CoV-2 genome that are characteristic of a particular VOC/VOI using PCR. (who.int)
- Though a number of studies have examined nucleotide replacements, little is known about length difference mutations produced by gene conversion. (prolekarniky.cz)
- Here, we explore length difference mutations produced by nonallelic gene conversion. (prolekarniky.cz)
- gross rearrangements of TK2 gene and possible hepatic involvement in patients with TK2 mutations have not been described. (bvsalud.org)
- While the myopathic form of MDDS appears to be the main phenotype of TK2 mutations , liver dysfunction may also be a part of the mitochondrial depletion syndrome caused by TK2 gene defects. (bvsalud.org)
- At least 43 SHANK3 gene mutations have been found in people who have autism spectrum disorder (ASD), which is a varied condition characterized by impaired communication and socialization skills, as well as repetitive behaviors. (medlineplus.gov)
- Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome. (sigmaaldrich.com)
- Some mutations in the S gene may lead to changes in the spike protein which result in inhibition of contact and entry of the virus into human cells, however in the case of the VOC, they contain mutations in the S gene that enhance the process of contact and entry into human cells, increasing transmissibility of the virus. (who.int)
- Currently, manufacturers are focusing on and targeting assays to mutations in the S gene. (who.int)
- These late genes were systematically deleted, and the resulting mutants were examined for their fitness during mouse models of bacteremia and acute pneumonia. (illinois.edu)
- In contrast, some mutants were attenuated only in the wild-type genetic background but not in the ComX-null background, suggesting that specific expression of these genes during competence state contributed to pneumococcal fitness. (illinois.edu)
- Assays involve use of deletion mutants, gene knockouts and complementation analysis. (usda.gov)
- Deletions for pfhrp2 and pfhrp3 include both single and double deletions. (cdc.gov)
- A number of studies have examined nucleotide replacements produced by allelic and nonallelic gene conversion, some of which have uncovered a GC bias  -  . (prolekarniky.cz)
- Elimination of a length difference was due to an insertion if one paralog acquired an additional nucleotide(s) at that position, and was due to a deletion if it lost a nucleotide(s) at that position. (prolekarniky.cz)
- Due to this high rate, deletion-biased nonallelic gene conversion plays a key role in genome size evolution, leading to the cooperative shrinkage and eventual disappearance of selectively neutral paralogs. (prolekarniky.cz)
- Current diagnostic PCR assays target a variety of SARS CoV-2 genes and the vast majority target sequences in regions of the SARS CoV-2 genome that are highly conserved. (who.int)
- Gene Deletion (Up to 300 kb in size) by CRISPR/Cas9. (musc.edu)
- The investigators intend to develop this new research resource to the stage of being able to induce efficient and complete deletion of loxP-flanked targets in whole mice, by simply injecting mice with TATCre protein. (elsevierpure.com)
- Deletion of the Lkb1 (also called Stk11) gene in mice caused increased haematopoietic stem cell (HSC) division, rapid HSC depletion and pancytopenia. (nih.gov)
- Among these, 14 late genes were important for fitness in mice. (illinois.edu)
- In contrast with findings in other cystic models, cysts in Kif3a mutant mice did not display accumulation of hypoxia-inducible factor 1- α (HIF1 α ), and deletion of both Hif1a and Kif3a did not affect cyst development or progression. (lww.com)
- Here, we applied calcium imaging to characterize the odorant response properties of single neurons from gene-targeted mice in which the green fluorescent protein is coexpressed with a particular OR. (jneurosci.org)
- Such assays can be used as a screen to presumptively identify SARS-CoV-2 variants that have the Δ69-70 deletion, including the Omicron variant. (cdc.gov)
- Use a multiplex assay that targets multiple viral genes, or an assay that targets an essential viral gene which is unlikely to mutate, or an assay that detects non-variola Orthopoxvirus . (cdc.gov)
- The viral S gene is important as it codes for the Spike protein which is the molecule that makes contact with, and allows entry of the virus into susceptible host cells, causing infection. (who.int)
- David Collier said "Although deletions in neurexin 1 are rare, they increase the risk of schizophrenia by ten-fold, a much higher risk than had been expected for genetic factors predisposing for this disorder. (kcl.ac.uk)
- Gene conversion is the unidirectional transfer of genetic information between orthologous (allelic) or paralogous (nonallelic) genomic segments. (prolekarniky.cz)
- Interestingly, only 16 late genes are essential for genetic transformation. (illinois.edu)
- Significantly, deletion of some late genes attenuated pneumococcal fitness to the same level in both wild-type and ComX-null genetic backgrounds, suggesting that the constitutive baseline expression of these genes was important for bacterial fitness. (illinois.edu)
- von Hippel-Lindau (VHL) disease is an autosomal dominant genetic disorder caused by inheritance of a mutant allele of the VHL gene. (lww.com)
- Association of genetic variations in antioxidant enzyme genes with diisocyanate-induced asthma in exposed workers. (cdc.gov)
- A case-control study was conducted to investigate whether genetic variations within antioxidant enzyme genes, glutathione S-transferases (GSTM1- GSTT1, GSTM3, GSTP1), manganese superoxide dismutase (MnSOD) and microsomal epoxide hydrolase (EPHX1), play a role in susceptibility to DA. (cdc.gov)
- Researchers believe that a deletion of the SHANK3 gene and a reduction in the amount of SHANK3 protein produced is responsible for many of the features of 22q13.3 deletion syndrome. (medlineplus.gov)
- A decrease in the functioning of synapses and cell-to-cell communication between neurons caused by a lack of SHANK3 protein is thought to contribute to the developmental delay, intellectual disability, and absent or severely delayed speech characteristic of people with 22q13.3 deletion syndrome. (medlineplus.gov)
- Bonaglia MC, Giorda R, Mani E, Aceti G, Anderlid BM, Baroncini A, Pramparo T, Zuffardi O. Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. (medlineplus.gov)
- Goldenhar and Cri-du-chat syndromes: a contiguous gene deletion syndrome? (bvsalud.org)
- CDC is aware of three mpox virus (MPXV) cases in California in which preliminary data show a significant deletion in the tumor necrosis factor (TNF) receptor gene. (cdc.gov)
- Loss of function of the von Hippel-Lindau tumor suppressor gene ( VHL ) predisposes renal epithelial cells to loss of the primary cilium in response to specific signals. (lww.com)
- The SHANK3 gene provides instructions for making a protein that is found in many of the body's tissues but is most abundant in the brain. (medlineplus.gov)
- The rpIK gene of Corynebacterium glutamicum ATCC13032 comprises 438 nucleotides and encodes a protein of 145 amino acids with a molecular mass of 15.3 kDa. (uni-bielefeld.de)
- The C. glutamicum rpIK gene is located downstream of secE, representing part of the protein export apparatus, and of nusG, encoding a transcription antiterminator protein. (uni-bielefeld.de)
- The rpIK gene is followed by an ORF homologous to rpIA encoding the 50S ribosomal protein LI. (uni-bielefeld.de)
- A C. glutamicum rplK mutant strain carrying a 12 bp in-frame deletion within rplK, which resulted in the loss of the tetrapeptide Pro-Ala-Leu-Gly in the L11 protein, was constructed. (uni-bielefeld.de)
- The S gene is one of the structural genes of the virus which encodes for a protein that sits on the surface of the SARS CoV-2 virus. (who.int)
- This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus. (bvsalud.org)
- Discover natural compounds that disrupt functionality of gene targets identified. (usda.gov)
- These deletions also link schizophrenia directly to autism, since neurexin deletions are associated with both diseases. (kcl.ac.uk)
- The reason we want to identify the genes involved is to improve management and treatment for the patient, and in the case of schizophrenia this may mean tests to help manage risk and allow early intervention. (kcl.ac.uk)
- Public health laboratories and select commercial laboratories use the CDC FDA cleared NVO test, which can correctly identify Orthopoxvirus when the TNF gene deletion occurs. (cdc.gov)
- Identify genes involved in triggering mycotoxin biosynthesis using high-through put bioassays. (usda.gov)
- Variations in other genes and environmental factors are also thought to affect the risk of this complex disorder. (medlineplus.gov)
- Since EPHX1 and GSTT1 genes are important components of lung defense against oxidative stress, variations in these genes which regulate their expression may represent important disease modifiers and contribute to DA susceptibility. (cdc.gov)
- Esta eliminación puede detectarse con técnicas citogenéticas y también puede inferirse si el fenotipo indica una eliminación en un locus específico. (bvsalud.org)
- In a major paper published on the 22nd October 2008 in the online edition of the journal Human Molecular Genetics, the SGENE consortium has identified a series of deletions in the neurexin 1 gene as being associated with schizophrenia. (kcl.ac.uk)
- CDC will update the published primer and probe sequence information to alert test developers of this TNF receptor gene deletion. (cdc.gov)
- In contrast, paralogs, or nonallelic segments, are found at different genomic loci and can have any copy number, in which each copy is derived from an ancestral sequence via gene duplication  . (prolekarniky.cz)
- Molecular laboratory developed tests (LDTs) designed using the CDC published primers and probes that specifically target mpox virus did NOT detect the virus because of the TNF receptor gene deletion in these specimens. (cdc.gov)
- This particular assay tests for three different SARS-CoV-2 genes so will still detect the virus but will fail to detect the S gene target specifically. (cdc.gov)
- In contrast to orthologs, paralogs have their own independent long-term phylogenies, making it possible to apply a direct phylogenetic approach to study their coevolution by gene conversion ( Figure 1 ). (prolekarniky.cz)
- These results distinguish the role of basal expression versus competence induction in virulence functions encoded by ComX-regulated late competence genes. (illinois.edu)
- We hypothesized that these late genes that are dispensable for competence are beneficial to pneumococcal fitness during infection. (illinois.edu)
- During competence development, the alternative sigma factor ComX is activated, which in turn, initiates transcription of 80 'late' competence genes. (illinois.edu)
- At this point, the TNF receptor gene deletion is rare. (cdc.gov)
- Cre recombinase in the form of a transgene is then employed to mediate deletion of the gene via the loxP sites, perhaps in a cell-type specific or restricted manner. (elsevierpure.com)
- In this way, researchers can, for example, by-pass embryonic lethality that might occur with a conventional knockout mouse approach and/or dissect the in vivo role of a widely expressed gene in specific cell types. (elsevierpure.com)
- This approach offers the prospect of achieving induced gene deletion in whole animals and cell lines without the use of a Cre recombinase transgene, and, therefore, provides many more potential avenues for research. (elsevierpure.com)
- As a result of the deletion, people with this condition have only one copy of the SHANK3 gene in each cell instead of the usual two copies. (medlineplus.gov)
- A new deletion causing alpha thalassemia has been characterised in a Greek family. (ox.ac.uk)
- To test this hypothesis, we analyzed the consequences of inducible renal epithelium-specific deletion of Vhl together with ablation of the primary cilium via deletion of the kinesin family member 3A ( Kif3a ) gene. (lww.com)
- Here, we report the analysis of odorant response properties from genetically identified OSNs that express particular OR genes and that send convergent axonal projections to defined glomeruli. (jneurosci.org)
- this service is limited to three MI/EP sessions with no guarantee of success if the deletion results in embryonic/postnatal lethality. (musc.edu)
- The Cre/loxP system now has a growing number of uses such as conditional gene deletion, transgene activation or inactivation, and translocation between nonhomologous mouse chromosomes. (elsevierpure.com)
- It is also apparent that some people carry these deletions but do not get ill. (kcl.ac.uk)
- The chromosomal region that is typically deleted is thought to contain many genes, including the SHANK3 gene. (medlineplus.gov)
- Variables were considered categorical variables and the association between them and deletions were assessed using χ 2 testing. (cdc.gov)