title: A new β-thalassemia deletion mutation [codon 36 (-C)] observed in a Chinese woman.
abstract: In this study we present the first report of the detection of a new β-thalassemia (β-thal) mutation at codon 36 (-C) in the Chinese population. This frameshift mutation generates a TGA stop codon at position 60, resulting in a thalassemia phenotype. This is the first example of a premature stop codon at position 60 because of codon 36. The characterization of uncommon mutations is useful for the screening of β-thal carriers, genetic counseling and prenatal diagnosis.
authors.affiliation: Center of Prenatal Diagnosis, Maternal and Child Health Care Hospital of Fujian Province, Fuzhou, Fujian, People's Republic of China.
authors.forename: Hailong
authors.initials: H
authors.lastname: Huang
authors.forename: Liangpu
authors.initials: L
authors.lastname: Xu
authors.forename: Na
authors.initials: N
authors.lastname: Lin
authors.forename: Jinbang
authors.initials: J
authors.lastname: Xu
authors.forename: Deqin
authors.initials: D
authors.lastname: He
authors.forename: Ying
authors.initials: Y
authors.lastname: Li
authors.forename: Lin
authors.initials: L
authors.lastname: Zheng
authors.forename: Hekun
authors.initials: H
authors.lastname: Liu
authors.forename: Yuan
authors.initials: Y
authors.lastname: Lin
mesh_terms: D000328:Adult; D001483:Base Sequence; D002681:China; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D017384:Sequence Deletion; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D055544:beta-Globins