相关实验视频

Updated: May 28, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

七种HLA-B的新同义变体,以下一代测序为特征

Luis Alberto Marín Rubio¹, Jesús Ontañón¹

¹Immunology Unit, Clinical Analysis Department, Albacete University Hospital Complex, Albacete, Spain.

|February 11, 2025

概括

这项研究详细介绍了几个人类白细胞抗原 (HLA) -B等位基因组序列,特别是HLA-B*14:01:01:12, -B*15:01:01:67, -B*35:01:01:90, -B*35:03:01:38, -B*35:31:02, -B*41:01:09,和 -B*44:02:01:85.

科学领域:

免疫遗传学免疫遗传学
分子生物学分子生物学

背景情况:

人类白细胞抗原 (HLA) 系统在免疫反应和移植中起着至关重要的作用.
精确的HLA等位基因组测序对于理解免疫多样性和疾病关联至关重要.

研究的目的:

为特定的,新发现或特征的HLA-B等位基因提供完整的基因组序列.
为全面对HLA遗传变异进行分类做出贡献.

主要方法:

使用高分辨率测序技术来确定全基因组DNA序列.
进行了生物信息分析,以确认等位基命名和序列完整性.

主要成果:

成功确定了以下HLA-B等位基因的完整基因组序列:HLA-B*14:01:01:12,HLA-B*15:01:01:67,HLA-B*35:01:01:90,HLA-B*35:03:01:38,HLA-B*35:31:01:02,HLA-B*41:01:01:09,以及HLA-B*44:02:01:85.这些等位基因组序列的基因组组序列包括:HLA-B*14:01:01:12,HLA-B*15:01:01:67,HLA-B*35:01:01:90,HLA-B*35:03:01:38,HLA-B*35:31:01:02,HLA-B*41:01:01:09,以及HLA-B*44:02:01:85.
这些序列代表HLA-B位置内的新数据或精细数据.

结论:

这些精确的基因组序列的可用性提高了HLA类型的分辨率,并促进了进一步的研究.
这些数据对于人口遗传学研究,移植兼容性和了解HLA相关疾病至关重要.

关键词:

HLA-B HLA-B 是一个很好的方法.新的等位基因是新的等位基因.这是下一代测序.

更多相关视频

T and B Cell Receptor Immune Repertoire Analysis using Next-generation Sequencing

T and B Cell Receptor Immune Repertoire Analysis using Next-generation Sequencing

Published on: January 12, 2021

Amplification of Near Full-length HIV-1 Proviruses for Next-Generation Sequencing

Amplification of Near Full-length HIV-1 Proviruses for Next-Generation Sequencing

Published on: October 16, 2018

相关概念视频

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

Next-generation Sequencing

Next-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....

Single Nucleotide Polymorphisms-SNPs

Single 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,...

Leaky Scanning

Leaky Scanning

During most eukaryotic translation processes, the small 40S ribosome subunit scans an mRNA from its 5' end until it encounters the first start AUG codon. The large 60S ribosomal subunit then joins the smaller one to initiate protein synthesis. The location of the translation initiation is largely determined by the nucleotides near the start codon as there may be multiple translation initiation sites present on the mRNA. Marilyn Kozak discovered that the sequence RCCAUGG (where R...