title: The beta-thalassemia frameshift at codon 8 (-AA) observed in four Chinese of the Uygur nationality.
abstract: During a survey for beta-thalassemia in Kashi City, Xinjiang Province, P.R. China, four unrelated Uygur students were identified as heterozygotes for the beta-thalassemia frameshift at codon 8 (-AA). Detection was with the polymerase chain reaction combined with allele-specific oligonucleotide hybridization. This beta-thalassemia allele has not been observed in the Chinese population before and might be rather specific for the Uygur nationality.
authors.affiliation: Laboratory of Medical Genetics, Western Region Hospital, Urumqi, Xinjiang, P.R. China.
authors.forename: H J
authors.initials: HJ
authors.lastname: Li
authors.forename: W Z
authors.initials: WZ
authors.lastname: Yu
authors.forename: C W
authors.initials: CW
authors.lastname: Zhou
authors.forename: X J
authors.initials: XJ
authors.lastname: Hao
authors.forename: Y
authors.initials: Y
authors.lastname: Zhou
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D003062:Codon; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon