Characterization of a Large Novel α-Globin Gene Cluster Deletion Causing α0-Thalassemia in a Chinese Family

被引：4

作者：

He, Sheng ^{[1
]}

Qin, Qian ^{[2
]}

Huang, Peng ^{[1
]}

Zhang, Shujie ^{[1
]}

Yi, Shang ^{[1
]}

Lin, Li ^{[1
]}

Zuo, Yangjin ^{[1
]}

Chen, Qiuli ^{[1
]}

Deng, Jianping ^{[2
]}

Zheng, Chenguang ^{[1
]}

Chen, Biyan ^{[1
]}

机构：

[1] Guangxi Zhuang Autonomous Reg Women & Children Ca, Prenatal Diagnost Ctr, 59 Xiangzhu Rd, Nanning 530012, Guangxi Zhuang, Peoples R China

[2] Baise Women & Children Care Hosp, Prenatal Diagnost Ctr, Baise, Guangxi Zhuang, Peoples R China

来源：

HEMOGLOBIN | 2017年 / 41卷 / 4-6期

关键词：

alpha-Globin gene cluster; alpha-thalassemia (alpha-thal); multiplex ligation-dependent probe amplification (MLPA); array comparative genomic hybridization (aCGH); THALASSEMIA; REGION;

D O I：

10.1080/03630269.2017.1366919

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：

We report a large novel a-globin cluster deletion that we named --(PG) (NG_000006.1: g.93628_542759del450131), in a Chinese family. This large deletion is approximately 450 kb long, spanning from upstream of the PolR3k gene at the 5' end to the RAB11FIP3 gene at the 3' end of chromosome 16p13.3. This deletion removes all the globin distal regulatory elements as well as the whole alpha-globin gene cluster. Patients with heterozygous --(PG)/alpha alpha had red blood cell (RBC) indices consistent with alpha-thalassemia (alpha-thal) trait, but no apparent increase in a cancer tendency or mental disability, microcephaly, relative hypertelorism, unusual facies or genital anomalies.

引用

收藏

页码：297 / 299

页数：3

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