一种新的 δ-环球蛋白基因变异:Hb A2-Yulin [δ46(CD5) Gly→Arg,HBD:C.139G > A]
Hui-Ming Lin1, Liang Liang2, Yi-Jiao Cai1
1Department of Clinical Laboratory, Luchuan Women and Children Health Care Hospital, Yulin, China.
Hemoglobin
|March 7, 2024
概括
在中国的一名儿童身上发现了一种新的三角链血红蛋白变体Hb A2-Yulin. 这一发现扩大了已知的血红蛋白病变的范围,并有助于理解遗传变异.
科学领域:
- 血液学 血液学 血液学
- 人类遗传学 人类遗传学
- 分子生物学分子生物学
背景情况:
- 血球蛋白病是一种多样化的一组遗传性血液疾病.
- 准确识别新型血红蛋白变异对于遗传咨询和临床管理至关重要.
- 三角链血红蛋白 (Hb) A2在成人血红蛋白组成中起作用.
研究的目的:
- 为了描述一个新发现的三角链血红蛋白变体.
- 为了确定所观察到的血红蛋白异常的遗传基础.
- 报告这种新型变异的识别和命名法.
主要方法:
- 毛细管电泳和高性能液态染色学 (HPLC) 用于初始检测.
- 聚合酶连锁反应 (PCR) 和反向点点杂交被用于基因分析.
- 桑格对HBD基因的测序证实了特定突变.
主要成果:
- 在一个5岁的女性中检测到一种新的Hb A2变体Hb A2-Yulin.
- 这种变异被确定为HBD基因 (c.139G>A) 的代码子46的G>A过渡,导致糖氨酸与氨酸的替代 (δ46(CD5) Gly→Arg).
- 在HBB基因上也观察到CD41-42 (-TCTT) 的异性.
结论:
- Hb A2-Yulin代表了一种新的三角链血红蛋白变体.
- 在HBD基因的基因突变是负责这个新的变种.
- 这一发现有助于越来越多的血红蛋白变体清单及其分子特征.
相关概念视频
Exon Recombination
3.6K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon...
Exon shuffling follows “splice frame rules.” Each exon...
3.6K
Gene Families
8.8K
Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
8.8K
Multiple Allele Traits
34.2K
The Concept of Multiple Allelism
34.2K
Globular and Fibrous Proteins
43.7K
Many proteins can be classified into two distinct subtypes - globular or fibrous. These two types differ in their shapes and solubilities.
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...
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...
43.7K
Lethal Alleles
15.4K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
15.4K
Gene Duplication and Divergence
6.1K
The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was generated by gene duplication and divergence, indicating its critical role in evolution.
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...
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...
6.1K


