机构：[1]Department of Obstetrics and Gynecology, The First People’s Hospital of Yunnan Province, Kunming, China外科片产科妇科云南省第一人民医院[2]Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province, Kunming, China门急诊片医学遗传科云南省第一人民医院[3]Affiliated Hospital of Kunming University of Science and Technology, Kunming, China[4]Department of Hematology, The First People’s Hospital of Yunnan Province, Kunming, China内科片血液内科云南省第一人民医院
BackgroundDeletional hereditary persistence of fetal hemoglobin (HPFH)/delta beta-thalassemia and delta-thalassemia are rare inherited disorders which may complicate the diagnosis of beta-thalassemia. The aim of this study was to reveal the frequency of these two disorders in Southwestern China. MethodsA total of 33,596 subjects were enrolled for deletional HPFH/delta beta-thalassemia, and positive individuals with high fetal hemoglobin (Hb F) level were diagnosed by multiplex ligation-dependent probe amplification (MLPA). A total of 17,834 subjects were analyzed for mutations in the delta-globin gene. Positive samples with low Hb A(2) levels were confirmed by delta-globin gene sequencing. Furthermore, the pathogenicity and construction of a selected delta-globin mutation were analyzed. ResultsA total of 92 suspected cases with Hb F >= 5.0% were further characterized by MLPA. Eight different deletional HPFH/delta beta-thalassemia were observed at a frequency of 0.024%. In addition, 195 cases suspected to have a delta-globin gene mutation (Hb A(2) <= 2.0%) were characterized by molecular analysis. delta-Globin gene mutation was found at a frequency of 0.49% in Yunnan. The pathogenicity and construction for a selected delta-globin mutation was predicted. ConclusionScreening of these two disorders was analyzed in Southwestern China, which could define the molecular basis of these conditions in this population.
基金：
National Natural Science Foundation of
China (81260415, 81860040, 81660022,
81860030, 81460678); Natural Science
foundation of Yunnan Province
(2017FE467[‐108], 2017FE467[‐122]);
Academic Leader Programme of Health
and Family Planning Commission of
Yunnan province (D‐2017056); and Internal
scientific Research Project of Clinical
Genetics Institute of Yunnan Province
(2016NS234).
第一作者机构：[1]Department of Obstetrics and Gynecology, The First People’s Hospital of Yunnan Province, Kunming, China[2]Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province, Kunming, China[3]Affiliated Hospital of Kunming University of Science and Technology, Kunming, China[4]Department of Hematology, The First People’s Hospital of Yunnan Province, Kunming, China
通讯作者：
通讯机构：[1]Department of Obstetrics and Gynecology, The First People’s Hospital of Yunnan Province, Kunming, China[2]Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province, Kunming, China[3]Affiliated Hospital of Kunming University of Science and Technology, Kunming, China[*1]Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, the First People’s Hospital of Yunnan Province, China.[*2]Department of Obstetrics and Gynecology, the First People’s Hospital of Yunnan Province, China.
推荐引用方式(GB/T 7714)：
Zhang Jie,Yang Yang,Li Peng,et al.Analysis of deletional hereditary persistence of fetal hemoglobin/delta beta-thalassemia and delta-globin gene mutations in Southerwestern China[J].MOLECULAR GENETICS & GENOMIC MEDICINE.2019,7(6):doi:10.1002/mgg3.706.
APA：
Zhang, Jie,Yang, Yang,Li, Peng,Yan, Yuanlong,Lv, Tao...&Zhu, Baosheng.(2019).Analysis of deletional hereditary persistence of fetal hemoglobin/delta beta-thalassemia and delta-globin gene mutations in Southerwestern China.MOLECULAR GENETICS & GENOMIC MEDICINE,7,(6)
MLA：
Zhang, Jie,et al."Analysis of deletional hereditary persistence of fetal hemoglobin/delta beta-thalassemia and delta-globin gene mutations in Southerwestern China".MOLECULAR GENETICS & GENOMIC MEDICINE 7..6(2019)
