title: Molecular spectrum of β-thalassemia in Fujian Province, Southeastern China.
abstract: To provide basic information for β-thalassemia (β-thal) screening, genetic counseling and prenatal diagnosis (PND), we characterized β-thal mutations in Fujian Province, Southeastern China. A total of 16 different β-thal gene mutations were identified from 1058 patients. Of these, the IVS-II-654 (C>T) and codons 41/42 (-TCTT) were the most prevalent, accounting for 76.3% of the total mutations. Six gene mutations, IVS-I-1 (G>T), Cap +40 to +43 (-AAAC), codon 30 (A>G), +22 (G>A), codons 54-58 (-TTATGGGCAACCC) and the initiation codon (ATG>AGG) were characterized for the first time in the Fujian population. Furthermore, the following mutations, +22 (G >A), codon 36 (-C) and codon 30 (A>G), were identified for the first time in Chinese individuals. This was the first comprehensive mutation spectrum of β-thal mutations studied in Fujian Province, People's Republic of China (PRC).
authors.affiliation: Center of Prenatal Diagnosis, Maternal and Child Health Care Hospital of Fujian Province, Fuzhou, 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: Deqin
authors.initials: D
authors.lastname: He
authors.forename: Yin
authors.initials: Y
authors.lastname: Li
authors.forename: Danhua
authors.initials: D
authors.lastname: Guo
authors.forename: Linshuo
authors.initials: L
authors.lastname: Wang
authors.forename: Yan
authors.initials: Y
authors.lastname: Wang
authors.forename: Lin
authors.initials: L
authors.lastname: Zhen
authors.forename: Jinbang
authors.initials: J
authors.lastname: Xu
authors.forename: Yuan
authors.initials: Y
authors.lastname: Lin
mesh_terms: D002681:China / Q000453:epidemiology; D003062:Codon; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D009154:Mutation; D059645:Mutation Rate; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D003062:Codon; D055544:beta-Globins