title: Identification of a Novel β-Globin Mutation (HBB: C.189_195delTCATGGC) in a Chinese Family.
abstract: β-Thalassemia (β-thal) is one of the most common genetic disorders worldwide. Molecular characterization of β-thal is essential for prevention and understanding the biology of the disease. More and more rare and novel mutations are being reported. Here, we report a novel 7 bp deletion at codons 63-65 (HBB: c.189_195delTCATGGC) in exon 2 of the β-globin gene in a family from Guangxi Province, China. This novel mutation causes a shift in the normal reading frame of the β-globin coding sequence and created a stop codon at codon 87 in exon 2, which leads to a β(0)-thal phenotype.
authors: a Prenatal Diagnosis Center, Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors: Sheng
authors: S
authors: He
authors: a Prenatal Diagnosis Center, Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors: Li
authors: L
authors: Lin
authors: a Prenatal Diagnosis Center, Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors: Yuan
authors: Y
authors: Wei
authors: a Prenatal Diagnosis Center, Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors: Biyan
authors: B
authors: Chen
authors: a Prenatal Diagnosis Center, Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors: Shang
authors: S
authors: Yi
authors: a Prenatal Diagnosis Center, Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors: Qiuli
authors: Q
authors: Chen
authors: a Prenatal Diagnosis Center, Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors: XiaoXia
authors: X
authors: Qiu
authors: a Prenatal Diagnosis Center, Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors: Hongwei
authors: H
authors: Wei
authors: b Guangxi Zhuang Autonomous Region Health and Family Planning Commission , Nanning , People's Republic of China.
authors: Guojian
authors: G
authors: Li
authors: a Prenatal Diagnosis Center, Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors: Chenguang
authors: C
authors: Zheng
mesh_terms: D044466:Asian People / Q000235:genetics; D018388:Codon, Terminator; D016368:Frameshift Mutation; D006801:Humans; D009154:Mutation; D010641:Phenotype; D017384:Sequence Deletion / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics
chemical_list: D018388:Codon, Terminator; D055544:beta-Globins
keywords: novel mutation; β-Globin; β-thalassemia