MOLECULAR EPIDEMIOLOGICAL SURVEY OF HEMOGLOBINOPATHIES IN THE WUXI REGION OF JIANGSU PROVINCE, EASTERN CHINA

被引：21

作者：

Lin, Min ^{[1
]}

Han, Zhi-Jun ^{[2
]}

Wang, Qian ^{[3
]}

Zheng, Lei ^{[3
]}

Wang, Yan ^{[2
]}

Yang, Hui ^{[1
]}

Huang, Yue ^{[1
]}

Lin, Fen ^{[1
]}

Zhan, Xiao-Fen ^{[1
]}

Lin, Chun-Ping ^{[1
]}

Wu, Jiao-Ren ^{[1
]}

Luo, Zhao-Yun ^{[1
]}

Liu, Jing-Bo ^{[2
]}

Yan, Zhi-He ^{[2
]}

Zheng, Shu-Yan ^{[1
]}

Zheng, Jia-Kun ^{[1
]}

Lu, Min ^{[4
]}

Zhu, Juan-Juan ^{[4
]}

Xie, Long-Xu ^{[4
]}

Yang, Li-Ye ^{[1
]}

机构：

[1] Southern Med Univ, Chaozhou Cent Hosp, Lab Med Ctr, Chaozhou, Guangdong, Peoples R China

[2] Nanjing Med Univ, Wuxi Peoples Hosp 2, Lab Med Ctr, Wuxi, Jiangsu, Peoples R China

[3] Southern Med Univ, Nanfang Hosp, Lab Med Ctr, Guangzhou, Guangdong, Peoples R China

[4] Chaozhou Hybribio Ltd Corp, Chaozhou, Guangdong, Peoples R China

来源：

HEMOGLOBIN | 2013年 / 37卷 / 05期

基金：

中国国家自然科学基金;

关键词：

Hemoglobinopathies; Molecular epidemiological survey; Thalassemia; GLOBIN GENE-CLUSTER; BETA-THALASSEMIA; DISORDERS; MUTATIONS; DELETIONS; VARIANTS; DATABASE; ALPHA; HBVAR;

D O I：

10.3109/03630269.2013.807285

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：

In order to determine the prevalence and molecular characterization of hemoglobinopathies in the Wuxi region of Jiangsu Province in the People's Republic of China (PRC), a total of 10,297 healthy people selected from a regional hospital were screened. Hemoglobin (Hb) electrophoresis, complete blood cell (CBC) count, polymerase chain reaction (PCR), DNA sequencing, reverse dot-blot and multiplex ligation-dependent probe amplification (MLPA) were used to detect Hb variants, thalassemias and hereditary persistence of fetal Hb (HPFH). Two thousand and twenty-one adult subjects were screened for thalassemia, five cases were identified as alpha-thalassemia (alpha-thal) carriers including three cases of the -alpha(3.7) (rightward) deletion, one case of the --(SEA) deletion and one case of beta-thal [IVS-II-654 (C>T), (HBB: c.316-197C> T)]. The incidence of Hb variants, thalassemia and HPFH/delta beta-thal were 0.136% (14/10,297), 0.25% (5/2021) and 0.0001% (1/10,297), respectively. Eight genotypes of Hb variants were found, including Hb E [beta 26(B8) Glu -> Lys, GAG>AAG; HBB: c. 79G>A], Hb J-Bangkok [beta 56(D7) Gly -> Asp (GGC> GAC); HBB; c. 170G> A], Hb G-Coushatta [beta 22(4) Glu! Ala (GAA> GCA); HBB: c. 68A> C], Hb Queens [alpha 34(B15) Leu -> Arg (CTG> CGG) (alpha 2 or alpha 1); HBA2: c.104T> G (or HBA1)], Hb I [alpha 16(A14) Lys -> Glu, AAG> GAG (alpha 1); HBA1: c.49A> G], Hb Beijing [alpha 16(A14) Lys -> Asn (AAG> AAC or AAT) (alpha 2 or alpha 1); HBA2: c.51G> C (or HBA1) or 51G> T (or HBA1)], Hb Ube- 2 [alpha 68(E17) Asn -> Asp (AAC> GAC) (alpha 2 or alpha 1); HBA2: c. 205A> G (or HBA1)] and Hb G-Taipei [beta 22(B4) Glu -> Gly (GAA> GGA); HBB: c.68A> G]. A Sicilian delta beta(0)-thal, identified for the first time in Asia, was also found in this survey.

引用

页码：454 / 466

页数：13

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