相关实验视频
Updated: Jan 13, 2026

Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes
Published on: July 17, 2021
在中国人群中发现了两种新的d-环球蛋白链变异
Zhenping Su1, Rui Ji2, Hui Yu3
1Shenzhen Kingmed Clinical Laboratory, Shenzhen, Guangdong Province, People's Republic of China.
在中国人群中发现了HBD基因的两种新突变,导致血红蛋白A2 (HbA2) 水平降低. 这些基因变异,HbA2-深和HbA2-江,没有影响红细胞指数.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 血液学 血液学 血液学
背景情况:
- 该HBD基因编码的三角格洛宾链,血红蛋白A2 (HbA2) 的一个组成部分.
- HbA2在红细胞功能中起作用,其变异可能具有临床影响.
研究的目的:
- 在中国人群中识别和描述HBD基因中的新突变.
- 为了研究这些突变对HbA2水平和红细胞参数的影响.
主要方法:
- 桑格测序用于检测HBD基因中的突变.
- 毛细管电泳用于血红蛋白分析,量化HbA2水平和变异百分比.
- 评估了红细胞指数,包括平均体积 (MCV) 和平均体积血红蛋白 (MCH).
主要成果:
- 发现了两个新的HBD突变,即c.349C>A (Arg>Ser) 和c.201G>C (Lys>Asn).
- 这些突变导致HbA2水平降低 (1.2%),相应的变异百分比为0.5%和0.7%.
- 两种突变都与MCV或MCH的显著变化无关,这表明它们对红细胞大小或血红蛋白含量没有影响.
结论:
- 该研究报告了中国人群中出现的两种新的HBD变体,即HbA2-深和HbA2-江.
- 这些变异导致HbA2水平降低,但似乎不会引起微细胞分裂或影响每个细胞的血红蛋白含量.
- 需要进一步的研究来了解这些新型HBD突变的长期临床意义.
更多相关视频
06:41In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
07:26High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
Published on: July 18, 2017
相关概念视频
Single Nucleotide Polymorphisms-SNPs
Comparing Copy Number Variations and SNPs
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%...
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon...
Globular and Fibrous Proteins
Globular proteins are also known as spheroproteins and typically are approximately round in shape. They contain a mix of amino acid types and contain differing sequences in their primary structures. Globular proteins have many different functions, such as enzymes, cellular messengers, and molecular transporters. These roles often require the proteins to be...
Gene Families
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Gene Duplication and Divergence
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...