title: Analysis of the rs35959442 polymorphism in Hb E/β-thalassemia in Guangxi Province of the Republic of China.
abstract: Hb E [β26(B8)Glu→Lys]/β-thalassemia (β-thal) is a worldwide inherited disorder. We determined the phenotype of 65 unrelated Hb E/β-thal subjects and 70 healthy individuals in the Guangxi Province of the Republic of China (ROC). Single nucleotide polymorphism (SNP) rs35959442 in HBS1L analysis was performed using the polymerase chain reaction (PCR)/restriction enzyme method. The data suggested that the frequency of the rs35959442 polymorphism was relatively high in patients with Hb E/β-thal in Guangxi Province, ROC, when associated with Hb F augmentation.
authors.affiliation: Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, Republic of China.
authors.forename: Yunyan
authors.initials: Y
authors.lastname: He
authors.forename: Ping
authors.initials: P
authors.lastname: Chen
authors.forename: Weixiong
authors.initials: W
authors.lastname: Lin
authors.forename: Jianming
authors.initials: J
authors.lastname: Luo
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D005787:Gene Frequency; D056426:Genetic Loci; D005838:Genotype; D006446:Hemoglobin E / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic; D013624:Taiwan / Q000453:epidemiology; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D006446:Hemoglobin E; D005319:Fetal Hemoglobin