高级检索
当前位置: 首页 > 详情页

Identification of a Novel 7-bp Deletion in the alpha-Globin Gene Cluster in One Chinese Family

文献详情

资源类型:
WOS体系:

收录情况: ◇ SCIE

机构: [1]Department of Medical Genetics the First People’s Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, People’s Republic of China [2]Department of Pediatrics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, the First People’s Hospital of Yunnan Province, Kunming, People’s Republic of China [3]Department of Hematology, the First People’s Hospital of Yunnan Province, Kunming, People’s Republic of China
出处:
ISSN:

关键词: alpha-thalassemia next-generation sequencing Chinese family deletion mutation alpha-globin gene cluster

摘要:
Deletional alpha-thalassemia is characterized by reduced hemoglobin A(2) and involves the deletion of a few nucleotides, which is a rare hereditary disease. However, the detection of rare mutations using commonly used genetic tests is highly challenging. In the present study, next-generation sequencing (NGS) was used to identify a novel 7-bp deletion alpha-thalassemia in one individual from a Chinese family. Hematological parameters of the family members were determined using an automated cell counter, and hemoglobin electrophoresis was performed using a capillary electrophoresis system. Subsequently, NGS was performed on the genomic DNA of the patient and her family members. The 7-bp deletion (named Hb Honghe [HBA1: c.401_407delGCACCGT]) of alpha-thalassemia in the alpha-globin gene was confirmed using Sanger sequencing. The patient's father was also a heterozygous carrier of HBA1: c.401_407delGCACCGT deletion, but not her mother or sister. The application of the combined molecular approach is essential for the accurate diagnosis of rare thalassemia. This study reports a novel case of alpha-thalassemia. The characterization of the mutation might provide new insights into genetic counseling and accurate diagnosis of thalassemia.

基金:
语种:
被引次数:
WOS:
PubmedID:
中科院(CAS)分区:
出版当年[2023]版:
大类 | 4 区 医学
小类 | 4 区 生化与分子生物学 4 区 血液学
最新[2023]版:
大类 | 4 区 医学
小类 | 4 区 生化与分子生物学 4 区 血液学
JCR分区:
出版当年[2022]版:
Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Q4 HEMATOLOGY
最新[2023]版:
Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Q4 HEMATOLOGY

影响因子: 最新[2023版] 最新五年平均 出版当年[2022版] 出版当年五年平均 出版前一年[2021版] 出版后一年[2023版]

第一作者:
第一作者机构: [1]Department of Medical Genetics the First People’s Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, People’s Republic of China
共同第一作者:
通讯作者:
通讯机构: [1]Department of Medical Genetics the First People’s Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, People’s Republic of China [2]Department of Pediatrics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, the First People’s Hospital of Yunnan Province, Kunming, People’s Republic of China [3]Department of Hematology, the First People’s Hospital of Yunnan Province, Kunming, People’s Republic of China [*1]Department of Medical Genetics, the First People’s Hospital of Yunnan Province, Jinbi Road 157, Kunming, Yunnan Province, People’s Republic of China [*2]Department of Pediatrics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, the First People’s Hospital of Yunnan Province, Kunming, People’s Republic of China [*3]Department of Hematology, the First People’s Hospital of Yunnan Province [*4]Department of Hematology, the First People’s Hospital of Yunnan Province, Kunming, People’s Republic of China
推荐引用方式(GB/T 7714):
APA:
MLA:

资源点击量:82561 今日访问量:0 总访问量:681 更新日期:2025-01-01 建议使用谷歌、火狐浏览器 常见问题

版权所有©2020 云南省第一人民医院 技术支持:重庆聚合科技有限公司 地址:云南省昆明市西山区金碧路157号