Gene Diagnosis of 35 Cases with Thalassemia
- VernacularTitle:基因诊断珠蛋白生成障碍贫血35例
- Author:
cui-lian, LI
;
yue-huang, YANG
;
shi-tong, SHI
;
shu-fang, ZHENG
;
hong-yu, LIU
- Publication Type:Journal Article
- Keywords:
thalassemia;
gene diagnosis;
reverse dot blot
- From:Journal of Applied Clinical Pediatrics
1993;0(03):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To detect the type of gene mutation of thalassemia in Kunming city.Methods Sixty-three cases highly suspec-tive of thalassemia were determined with the methods of ploymerase chain reaction(PCR) and reverse dot blot(RDB) for the type of gene mutation.Results According to gene analysis,35 cases were final diagnosed from 63 cases suspective of thalassemia.Among the total,4 cases were gene deficiency ?-thalassemia,and 30 cases were gene deficiency ?-thalassemia,and there was 1 case both ?-thalassemia and ?-thalassemia.There were 9 types of gene mutation with 15 gene combinations in 35 samples.The main type of ?-thalassemia was--SEA/??,there were 6 types with 11 gene combinations from the types of genes of ?-thalassemia,the highest incidence of gene mutation was 17 site,including 17 site homozygote,heterozygote and double heterozygote.Conclusions The thalassemia invasion of Yunnan has its characters,and it is valuable to launch further research.In the same patient,there are ?-thalassemia and ?-thalassemia,it signifies that those 2 types should be diagnosed in the same time,to prevent missed diagnosis.
