The spectrum of α- and β-thalassemia mutations in Yunnan Province of Southwestern China.
作者： Jie Zhang , Bao-Sheng Zhu , Jing He , Xiao-Hong Zeng , Jie Su
DOI: 10.3109/03630269.2012.717327
关键词:
摘要: The aim of this study was to investigate the spectrum thalassemia mutations in Yunnan Province, Southwestern China. We detected 450 patients and carriers by multiplex gap polymerase chain reaction (gap-PCR), PCR reverse dot-blot hybridization direct sequencing methods 535 suspected patients. Four types α-thalassemia (α-thal) mutations, – –SEA (59.2%), –α3.7 (rightward) (19.0%), Hb Constant Spring [Hb CS, α142, Term→Gln, TAA>CAA (α2), αCSα] (15.5%), –α4.2 (leftward) (6.34%) were detected. Six β-thal most prevalent being E [β26(B8)Glu→Lys, GAG>AAG or codon 26 (G>A)] (30.5%), followed 17 (A>T) (20.8%), codons 41/42 (−TCTT) (17.5%), IVS-II-654 (C>T) (17.2%), −28 (A>G) (6.95%), 71/72 (+A) (2.42%) also Other rare 27/28 (+C), IVS-I-1 (G>T), New York [β113(G15)Val→Glu, GTG>GAG], D-Los Angeles [β121(GH4)Glu→Gln, GAA>CAA], 5 (–CT), G-Taipei [β22(B4)Glu→Glu (GAA>GGA)], J-Lome [β59(E3)Lys...
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