在中国的HBA2:C.95 G>A突变的表型分析
Jian-Lian Liang1, Yi-Yuan Ge2, Long-Xu Xie2
1Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong, People's Republic of China.
Hemoglobin
|November 6, 2024
概括
在中国患者中,HBA2:c.95G>A突变会导致α-加 thalassemia. 与东南亚删除同时发生导致血红蛋白H疾病,呈现为中度贫血.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 血液学 血液学 血液学
- 分子生物学分子生物学
背景情况:
- 阿尔法thalassemia是一种常见的遗传性血液疾病.
- 这种HBA2:c.95G>A突变是已知的阿尔法加血病的原因.
- 了解其在不同人群中的临床表型至关重要.
研究的目的:
- 在中国人群中分析HBA2:c.95G>A突变的临床和遗传特征.
- 为临床诊断和遗传咨询提供指导.
- 为了研究共同遗传的α-thalassemia删除的影响.
主要方法:
- 患者招募和样本采集 (n=16).
- 血液学参数分析和血红蛋白电泳.
- 使用PCR-RDB,嵌套PCR,Gap-PCR和DNA测序进行基因定型.
主要成果:
- 12名患者表现出微细胞性缺血性贫血 (MCV 53-74.7 fl,MCH 16.2-25.4 pg).
- 三个病例呈现出显著的HbH + HbBarts波段 (>15%).
- 基因型包括HBA2:c.95G>A异构体,以及与-α3.7,-α4.2和-SEA删除的组合.
结论:
- 这种HBA2:c.95G>A突变是导致阿尔法加血症的原因.
- 与-SEA删除的结合导致血红蛋白H疾病.
- 临床表现范围从轻度贫血到中度的微细胞低染色贫血与HbH/HbBarts.
更多相关视频
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
9.7K
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
11.8K
相关概念视频
Genetic Lingo
101.3K
Overview
101.3K
Multiple Allele Traits
34.0K
The Concept of Multiple Allelism
34.0K
Lethal Alleles
15.0K
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...
15.0K
Genome-wide Association Studies-GWAS
12.5K
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...
GWAS does not require the identification of the target gene involved in...
12.5K
Blood Types
17.4K
Human blood is classified into different types based on the presence of antigens on the red blood cell's surface and antibodies in the plasma. Proper identification of blood type is essential for successful blood transfusion. The International Society of Blood Transfusion has identified 38 human blood types based on the surface antigens on the red blood cells. The most common types are ABO, Rh, and MNS blood types.
ABO blood group
ABO antigens are glycoproteins encoded by genes present on...
ABO blood group
ABO antigens are glycoproteins encoded by genes present on...
17.4K
Pedigree Analysis
84.0K
Overview
84.0K
