THE GENE ANALYSIS OF ?-THALASSEMIA MUTATION (IVS-Ⅱ -654, C→T) FOUND IN A FAMILY OF THE HAN NATIONALITY IN XINJIANG
- VernacularTitle:新疆1例汉族家系?地中海贫血IVS-Ⅱ-654(C→T)的基因分析
- Author:
Changwen ZHOU
;
Houjun LI
;
Wuzhong YU
;
Xiaojun HAO
- Publication Type:Journal Article
- Keywords:
thalassemia;
Gene mutation;
Polymerase chain reaction;
Oligonucleotide hybridization
- From:
Medical Journal of Chinese People's Liberation Army
1983;0(05):-
- CountryChina
- Language:Chinese
-
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.
