scispace - formally typeset
Search or ask a question

Answers from top 4 papers

More filters
Papers (4)Insight
It should be the method of choice for the detection of exon deletions and duplications of the DMD gene in patients with DMD or BMD, as well as in female carriers.
In addition, due to the relatively common finding of single exon deletions and duplications (22%, 27 of 125 total patients with deletions/duplications), methods to examine all exons of the gene for deletions/duplications should be used as the initial molecular quantitative test for DMD and BMD.
It would be missed if the exploration of the DMD gene is exclusively performed on exons and flanking sequences of genomic DNA.
There appear to be fundamental differences therefore in the origin of deletions and duplications in the DMD gene.

Related Questions

How many introns in each human gene?5 answersThe average number of introns per gene in the human genome is 7.8.
How many genes do humans have?5 answersHumans have an estimated number of genes ranging from 19,000 to 140,000, with different studies providing varying estimates. The first human genome publication in 2001 estimated the number of genes to be between 30,000 and 35,000. Another study estimated approximately 35,000 genes. However, there are also estimates of 45,000, 50,000 to 90,000, and even 70,000genes in the human genome. The number of genes in humans is still a topic of debate, and further research is needed to determine the exact number.
How many are in human genome?4 answersThe number of genes in the human genome is estimated to be between 30,000 and 140,000, with recent analyses suggesting a range of 40,000-100,000 genes. Early estimates suggested there might be 60,000-100,000 genes, but more recent data from EST sequencing projects and the Chromosome 22 Sequencing Consortium estimate a minimum of 45,000 genes. However, the first 'official' count of the number of genes in the human genome is smaller than expected, with fewer than 40,000 genes and a final number likely closer to 30,000. The complexity and diversity of biological functions in the human body are largely due to the complex network of gene expression regulation, which involves interactions at transcriptional and translational levels.
How many exons are in a DMD gene?5 answers
How much is an exon?6 answers
What percentage of human genome is Exon?3 answers

See what other people are reading

Which of the following results can a DNA microarray assay detect or identify?
4 answers
A DNA microarray assay can detect a variety of pathogens and genetic variations. Specifically, the contexts provided highlight the capabilities of DNA microarray assays in detecting various targets. These include the identification of bacterial species in pneumonia cases, such as Streptococcus pneumoniae, Staphylococcus aureus, and Mycoplasma pneumoniae. Additionally, the assay can detect blood protozoa like Plasmodium, Leishmania, and Toxoplasma gondii in humans, animals, and vectors. Furthermore, DNA microarrays can identify specific mutations related to diseases, such as papillary thyroid carcinoma mutations like BRAFV600E and NRAS codon 61. Overall, DNA microarray assays have shown effectiveness in detecting a wide range of pathogens, genetic variations, and mutations, making them valuable tools in diagnostics and research.
What are the current advancements in HER2-targeted treatment for advanced or metastatic urothelial carcinoma?
5 answers
Current advancements in HER2-targeted treatment for advanced or metastatic urothelial carcinoma include the evaluation of anti-HER2 RC48-ADC (disitamab vedotin) alone or in combination with immunotherapy. Studies have shown that RC48 alone or combined with immunotherapy can benefit patients with locally advanced or metastatic urothelial carcinoma, regardless of impaired renal function. Additionally, research has highlighted the potential role of HER2-targeted therapy in urothelial carcinoma, with a significant percentage of patients exhibiting HER2 positivity or low expression, indicating a promising target for treatment. The development of novel anti-HER2 ADCs, along with other targeted therapies like FGFR inhibition and Nectin-4 targeting, signifies a shift towards personalized and more effective treatment strategies for advanced urothelial carcinoma.
What are the Advances in HER2-Targeted Treatment for Advanced/Metastatic Urothelial Carcinoma?
5 answers
Advances in HER2-targeted treatment for advanced/metastatic urothelial carcinoma (UC) include the emergence of antibody-drug conjugates (ADCs) like RC48-ADC and other novel therapies. Studies have shown that anti-HER2 ADCs, such as RC48, demonstrate efficacy in HER2-positive metastatic UC, with promising outcomes in terms of progression-free survival (PFS), overall survival (OS), and objective response rates (ORR). Additionally, research highlights the potential of HER2-targeted therapies, including ADCs, as a novel approach for treating advanced UC, especially in cases where traditional treatments have failed. The development and testing of ADCs targeting HER2, along with other molecular pathways implicated in UC, signify a significant shift towards more personalized and effective treatments for advanced UC.
What factors have influenced the historical growth and decline of pineapple production in South Africa?
5 answers
The historical growth and decline of pineapple production in South Africa have been influenced by various factors. Initially, economic impacts due to contaminated fertilizer affecting pineapple growers in the Eastern Cape led to severe losses and compromised farming operations. Subsequently, a decline in potential output growth post-Global Financial Crisis (GFC) was observed, primarily attributed to lower productivity growth. In Benin, issues with poor average quality and uniformity in pineapple production have hindered international market exports, emphasizing the need for improvement in supply chains and agronomic practices. Furthermore, research on ROS scavenging and gene analysis in pineapples highlighted the role of peroxidases in mitigating internal browning, a major factor limiting industrial development in the pineapple sector. Additionally, insights into pineapple water relations and irrigation practices underscore the importance of understanding crop physiology for optimizing production and water use efficiency, especially in regions like South Africa.
What are the most common genetic mutations associated with hypothyroidism?
5 answers
The most common genetic mutations associated with hypothyroidism include mutations in genes such as DUOX2, TPO, and TSHR. These mutations are frequently detected in patients with congenital hypothyroidism (CH) and play a significant role in the pathogenesis of the condition. Studies have shown that DUOX2 mutations, especially compound heterozygous mutations, exhibit a high detection rate in CH patients. Additionally, mutations in genes like TG, FOXE1, and PAX8 have also been implicated in thyroid dysgenesis, a primary cause of CH. Furthermore, genetic screening has revealed a variety of mutations in genes involved in thyroid hormone synthesis, emphasizing the genetic complexity underlying hypothyroidism.
What is genomics for food adulteration?
5 answers
Genomics for food adulteration involves utilizing DNA-based methods to detect and prevent fraudulent practices in food products. These methods rely on specific markers, such as reference genes, to authenticate the origin and quality of food items, including plant and animal-based products. By analyzing DNA extracted from processed food samples, like cooked meat or olive oil, genomics can accurately identify species or varieties present, ensuring compliance with labeling regulations and detecting potential adulterants. Innovative technologies, like DNAFoil, offer rapid and user-friendly on-site tests for detecting food adulteration, making it accessible even at the household level. Overall, genomics plays a crucial role in safeguarding public health, ensuring food safety, and combating economic deception related to food fraud.
Why is DNA extraction important in the process?
4 answers
DNA extraction is crucial in various molecular analysis activities like PCR, DNA sequencing, and molecular diagnostics due to its role in obtaining high-quality and sufficient DNA. Efficient extraction is essential to prevent contaminants that can inhibit enzyme activity, affecting downstream processes like amplification and digestion. Different matrices, such as plant tissues and biological evidence, require specific extraction methods tailored to their characteristics for optimal performance. The quality and integrity of isolated DNA directly impact the accuracy of subsequent analyses, emphasizing the significance of thorough purification to remove contaminants like proteins, carbohydrates, and nucleic acids. Choosing the right extraction method based on factors like speed, cost-effectiveness, and reproducibility is crucial for successful molecular analysis.
What tests to perform after positive candidemia culture?
5 answers
After a positive candidemia culture, several tests can be performed to aid in diagnosis and management. These include PCR, β-1,3-D-glucan (BDG) testing, serologic testing, antifungal susceptibility testing, and (1,3)-β-D-glucan (BDG) testing. PCR and BDG testing have shown higher sensitivity for candidemia diagnosis compared to serologic testing, with BDG testing demonstrating advantages such as higher sensitivity and earlier diagnosis. Antifungal susceptibility testing methods like Etest and broth microdilution (BMD) directly from blood culture bottles can provide reliable results at least 24 hours earlier, aiding in initiating appropriate treatment promptly. Additionally, in-house qPCR assays have shown promising results in identifying Candida species with high sensitivity and concordance with blood cultures, offering a quicker turnaround time for diagnosis.
Alternative splicing of ABI3 and ABI5, substrates of SnRK2s, was observed following ABA treatment?
5 answers
Alternative splicing of ABI3 and ABI5, substrates of SnRK2s, was indeed observed following ABA treatment. Studies have shown that ABI3 undergoes alternative splicing to produce different isoforms with altered functions, affecting ABA signaling in both monocotyledons and dicotyledons. Additionally, ABA treatment significantly impacts the alternative splicing pattern of genes, leading to the generation of various isoforms, including alternative first exon (AFE) and alternative last exon (ALE) types. This splicing diversity contributes to the regulatory network of ABA signaling. The interaction between ABI3 and ABI5 is crucial, with specific isoforms of ABI3 showing differential activation of downstream genes and hypersensitivity to ABA during seed germination and root growth. These findings highlight the intricate role of alternative splicing in modulating ABA responses through ABI3 and ABI5.
How is RNA editinginvolved in the airway epithelium integrity and pathogen defense?
5 answers
RNA editing plays a crucial role in maintaining airway epithelium integrity and pathogen defense. Studies have shown that altered microRNA editing, specifically A-to-I editing, in bronchial epithelial cells is associated with asthma severity. Additionally, alternative splicing of genes like CHRNA7 and CHRFAM7A, involved in the cholinergic anti-inflammatory pathway, affects the nature of transcripts generated, potentially impacting the body's defense mechanisms against tissue injury or infection. Furthermore, microRNAs have been identified as essential regulators of ion channels and transporters responsible for airway surface liquid (ASL) homeostasis, which is crucial for mucociliary clearance and host defense against inhaled pathogens. These findings highlight the intricate involvement of RNA editing mechanisms in maintaining airway epithelium integrity and enhancing the defense against pathogens.
What are some limitation of amelogenine gene for sex determination?
5 answers
The limitations of using the amelogenin gene for sex determination include discrepancies due to X and Y chromosome deletions, mutations in primer binding sites, PCR inhibitors, DNA sample degradation, and mixed DNA presence. Studies suggest that amelogenin PCR alone may not be completely reliable for sex identification, as it can lead to failures in determining sex. To address these limitations, alternative markers like SRY, STS, TSPY, DXYS156, SNPs, DYZ1, and Next Generation Sequencing have been proposed to complement amelogenin analysis and improve accuracy in sex determination. Additionally, the dependence on sex-typing strategies based on amelogenin genes may have limitations in identifying single sample mix-ups and could be influenced by the sex distribution in the study population and rare genetic conditions.