MOLECULAR SPECTRUM OF β-THALASSEMIA IN FUJIAN PROVINCE, SOUTHEASTERN CHINA

被引：9

作者：

Huang, Hailong ^{[1
]}

Xu, Liangpu ^{[1
]}

Lin, Na ^{[1
]}

He, Deqin ^{[1
]}

Li, Yin ^{[1
]}

Guo, Danhua ^{[1
]}

Wang, Linshuo ^{[1
]}

Wang, Yan ^{[1
]}

Zhen, Lin ^{[1
]}

Xu, Jinbang ^{[1
]}

Lin, Yuan ^{[1
]}

机构：

[1] Maternal & Child Hlth Care Hosp Fujian Prov, Ctr Prenatal Diag, Fuzhou 350001, Peoples R China

来源：

HEMOGLOBIN | 2013年 / 37卷 / 04期

关键词：

beta-Thalassemia (beta-thal); Mutations; Fujian Province; ZHUANG AUTONOMOUS REGION; GUANGDONG PROVINCE; MINORITY POPULATIONS; MUTATIONS; ALPHA; PREVALENCE; GUANGXI; HEMOGLOBINOPATHIES; EPIDEMIOLOGY; SHENZHEN;

D O I：

10.3109/03630269.2013.792274

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

To provide basic information for beta-thalassemia (beta-thal) screening, genetic counseling and prenatal diagnosis (PND), we characterized beta-thal mutations in Fujian Province, Southeastern China. A total of 16 different beta-thal gene mutations were identified from 1058 patients. Of these, the IVS-II-654 (C>T) and codons 41/42 (-TCTT) were the most prevalent, accounting for 76.3% of the total mutations. Six gene mutations, IVS-I-1 (G>T), Cap +40 to +43 (-AAAC), codon 30 (A>G), +22 (G>A), codons 54-58 (-TTATGGGCAACCC) and the initiation codon (ATG>AGG) were characterized for the first time in the Fujian population. Furthermore, the following mutations, +22 (G>A), codon 36 (-C) and codon 30 (A>G), were identified for the first time in Chinese individuals. This was the first comprehensive mutation spectrum of beta-thal mutations studied in Fujian Province, People's Republic of China (PRC).

引用

页码：343 / 350

页数：8

共 50 条

[1] Spectrum of α-thalassemia mutations in Fujian province of South China
Huang, Hailong
Lin, Yuan
Lin, Na
He, Deqin
Wang, Yan
Wang, Linshuo
Guo, Danhua
Li, Ying
Xu, Liangpu
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE, 2018, 11 (11): : 12488 - 12493
[2] Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China
Qiu, Xiaolong
Zhao, Peiran
Luo, Jinying
Li, Guilin
Deng, Lin
Zeng, Yinglin
Xu, Liangpu
Zhou, Jinfu
FRONTIERS IN GENETICS, 2023, 14
[3] Analysis of genotype-phenotype correlation in patients with α-thalassemia from Fujian province, Southeastern China
Pan, Yali
Chen, Meihuan
Zhang, YanHong
Zhang, Min
Chen, Lingji
Lin, Na
Xu, Liangpu
Huang, Hailong
JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2022, 36 (10)
[4] Molecular Detection and Multilocus Genotyping of Giardia duodenalis in Pigs in Fujian Province, Southeastern China
Zhao, Fu-Rong
Zhang, Ning
Miao, Wen-Yuan
Wu, Ran
Cui, Lin-Lin
Huang, Cui-Qin
Zhou, Dong-Hui
ANIMALS, 2022, 12 (22):
[5] The Spectrum of β-Thalassemia Mutations in Siirt Province, Southeastern Turkey
Yilmaz, Sedat
HEMOGLOBIN, 2019, 43 (03) : 174 - 181
[6] Analysis of Gene Mutation Types of - and -Thalassemia in Fuzhou, Fujian Province in China
Xu, Chengbo
Liao, Bin
Qi, Yan
Huangfu, Zhenping
Chen, Jiawei
Chen, Yining
HEMOGLOBIN, 2018, 42 (03) : 143 - 147
[7] Molecular characterization of thalassemia and hemoglobinopathy in Southeastern China
Hailong Huang
Liangpu Xu
Meihuan Chen
Na Lin
Huili Xue
Lingji Chen
Yan Wang
Deqin He
Min Zhang
Yuan Lin
Scientific Reports, 9
[8] Molecular characterization of thalassemia and hemoglobinopathy in Southeastern China
Huang, Hailong
Xu, Liangpu
Chen, Meihuan
Lin, Na
Xue, Huili
Chen, Lingji
Wang, Yan
He, Deqin
Zhang, Min
Lin, Yuan
SCIENTIFIC REPORTS, 2019, 9 (1)
[9] Molecular spectrum of β-thalassemia in the Iranian province of hormozgan
Yavarian, M
Harteveld, CL
Batelaan, D
Bernini, LF
Giordano, PC
HEMOGLOBIN, 2001, 25 (01) : 35 - 43
[10] The Molecular Spectrum of Beta Thalassemia Mutations in Southeastern, Turkey
Karaer, Derya
Sahinoglu, Bahtiyar
Sahinoglu, Esra Pekpak
Gurler, Abdullah I.
Kirat, Emre
Karaer, Kadri
GAZI MEDICAL JOURNAL, 2023, 34 (01): : 63 - 67

← 1 2 3 4 5 →