0373

MUTATION TYPE AND FREQUENCY ANALYSIS OF β-THALASSEMIA GENE IN HUNAN CHINESE CHILDREN

Du J, Yang YJ, Song JH, and Tao YG

Department of Pediatrics, Xiangya Hospital, Changsha, China

Objective: β-thalassemia is a blood genetic disease caused mainly by the mutation of β-globin gene mapped on chromosome 11, with as more as 167 kinds of mutation types in the world .It does much harm to the people for the early onset year and poor prognosis. Region distribution is its another characteristic with high frequency in mediterraneann, the South East Asian and southern China. This study is to identify the mutation types and frequencies in Hunanβ-thalassemia children of China for lack of related information in this region.

Methods: According to the most common 18 kinds of point mutation found in Chinese, polymerase chain reation-reverse dot blot (PCR-RDB) technique was used to analyze the gene mutation of 38 β-thalassemia children (76 chromosomes) in Hunan province.

Results: 37 cases (69 chromosomes) among the patients were found mutation of β-globin gene , which accounts for 97.4% (37/38) in the examined cases. The seven common defects are IVS-2-654(CÕT), 40.6% (28/69); CD41-42 (-CTTT), 30.4% (21/69); CD17 (AÕT), 8.7% (6/69); -28 (AÕG), 8.7% (6/69); CD1415 (+G), 2.9% (2/69); CD27-28 (+C), 2.9% (2/69) and –29 (AÕG), 2.9% (2/69).

Conclusion: This study showed that PCR-RDB technique has a high detection rate for the Hunanβ - thalassemia patients. The results provide us with valueable data on genetic methanism and early treating plan of β- thalassemia in Hunan and indicate that PCR-RDB can also be used in prenatal diagnosis to prevent the birth of affected fetus.