Related Experiment Video
Updated: Jul 15, 2026
05:51
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Sequencing-based typing identifies novel alleles due to single nucleotide polymorphisms in 'conserved' regions
L K Smith1, D C Sayer, R S Whidborne
1Department of Clinical Immunology and Biochemical Genetics, Pathwest at Royal Perth Hospital, Perth, WA, Australia.
Tissue Antigens
|April 21, 2007
Summary
Royal Perth Hospital identified 29 novel human leukocyte antigen (HLA) alleles using sequencing-based typing between 2002 and 2005. This included rare null alleles, enhancing HLA typing databases.
Area of Science:
- Immunogenetics
- Molecular Biology
- Clinical Diagnostics
Background:
- The Royal Perth Hospital laboratory adopted sequencing-based typing for all human leukocyte antigen (HLA) loci in 2002.
- High-throughput HLA typing is crucial for transplantation and disease association studies.
Purpose of the Study:
- To report the identification of novel HLA alleles discovered through routine clinical HLA typing.
- To contribute to the international ImMunoGeneTics (IMGT) database with new genetic variations.
Main Methods:
- Utilized sequencing-based typing for high-resolution HLA typing of HLA-A, HLA-B, HLA-C, HLA-DRB1, and HLA-DQB1 loci.
- Processed approximately 12,000 HLA-A and HLA-B, 5,000 HLA-C and DQB1, and 17,000 DRB1 requests.
Main Results:
- Identified 29 novel HLA alleles between 2002 and October 2005.
- These included 10 HLA-A (one null), five HLA-B, six HLA-C, six DRB1 (one null), and one DQB1 novel allele.
- A blast-specific HLA-A null allele and a unique DRB1 null allele were identified.
Conclusions:
- Sequencing-based typing is effective in discovering novel HLA alleles during routine clinical practice.
- The identification of these novel alleles, including null alleles, enriches the global HLA genetic diversity data.
- Findings contribute valuable data to the IMGT database, aiding future research and clinical applications.
More Related Videos
10:41Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
Published on: March 29, 2017
11:35Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
Published on: August 21, 2016
Related Concept Videos
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
02:26Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
03:00Next-generation Sequencing
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
01:57Sanger Sequencing
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
03:21RNA-seq
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases.
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while microarray-based...
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while microarray-based...
01:29Modern Molecular Taxonomy
Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...