title: First Detection of the -27 (A > G) (HBB: c.-77A > G) Mutation of the β-Globin Gene in a Chinese Family.
abstract: We present the first description of a novel β-thalassemia (β-thal) mutation in a Chinese family. This mutation is located at -27 of the TATA box in the promoter of the β-globin gene (HBB: c.-77A > G) and is likely associated with a phenotype of β(+)-thalassemia (β(+)-thal).
authors.affiliation: a Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University , Guangdong , People's Republic of China.
authors.forename: Man-Yu
authors.initials: MY
authors.lastname: Wu
authors.affiliation: a Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University , Guangdong , People's Republic of China.
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D011401:Promoter Regions, Genetic; D017384:Sequence Deletion; D016385:TATA Box; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D055544:beta-Globins
keywords: TATA box; promoter mutation; β-Globin gene; β-thalassemia (β-thal)