THE GENE ANALYSIS OF ?-THALASSEMIA MUTATION (IVS-Ⅱ -654, C→T) FOUND IN A FAMILY OF THE HAN NATIONALITY IN XINJIANG / 解放军医学杂志

ABSTRACT

Gene analysis of the first family with ?-thalassemia in Xinjiang was carried out by polymerase chain reaction (PCR) in combination with dot blot hybridization of allele -specific oligonucleotide (ASO) probes. Seven of the 12 family members were heterozygous for the IVS- Ⅱ-654 (C→T) mutation. The abnormal ? gene of proband was confirmed from the paternal side according to family survey, clinical syndrome and hematological data.