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

被引：10

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

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