中重型β地中海贫血基因类型分析  

Analysis of the type of the gene mutation in β-thalassemia intermedia and major.

作　　者：崔金环[1] 郑雪莲[1] 区丽群[1] 杨光[1] 

机构地区：[1]佛山市第一人民医院临床医学研究所,广东528000

出　　处：《中国优生与遗传杂志》2003年第1期32-33,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的　了解中间型和重型 β地中海贫血基因突变类型及其相关血液、生化变化。方法　应用反向点杂交法检测 16种 β地贫点突变基因 ,常规进行血细胞分析及其他地贫筛查试验。结果　 2 7例中重型 β地贫患者中 10例为纯合子 ,17例为双重杂合子。 10例纯合子中 5例CD4 1 4 2纯合子 ,占 5 0 % ;3例TATAnt 2 8纯合子 ,占 30 % ;CD17纯合子和IVS -nt6 5 4纯合子各 1例 ,各占 10 %。 17例双重杂合子中 5例为IVS -nt6 5 4 /CD4 1 4 2占 2 9.4 % ;3例为CD17/CD4 1- 4 2 ,占 17.6 % ;3例为TATAnt 2 8/CD4 1 4 2 ,占 17.6 % ;2例为 βE/IVS -nt6 5 4 ,占 11.6 % ;CD17/TATAnt 2 8,IVS -nt6 5 4 /CD17,IVS -nt6 5 4 /CD1 1,1CD71 72 /IVS -nt6 5 4各 1例 ,各占 5 .9%。 2 7例患者血红蛋白均低于 90 .0 g/L ,平均为 5 8.8g/L ;平均MCV为 6 5 .0fl,脆性均少于 6 0 %。结论　中重型 β地中海贫血基因突变类型多样 ,组合类型不同 ,临床表现轻重不一 ,多呈中重度贫血 ,血液、生化均有明显改变 ,多需输血维持生命 ,故应做好产前诊断 ,预防其出生。s: Objective: To analyze the type of the gene mutation and the relative change of the hemotological and biochemical examination. Methods:The 16 β?thalassemia mutation were detected by PCR and reverse dot blot , the analysis of the blood corpuscle and the other thalasssemia screening test were generally used. Results:In 27 cases of the β?thalassemia intermedia and major, there were 10 of hemozygotes and 17 of double heterozygotes. In 10 hemozygotes, the gene mutation were as follows: 5 of CD41?42/CD41?42(50%), 3 of TATAnt?28/TATAnt?28(30%), 1 of CD17/CD17(10%), 1 of IVS?nt654(10%). Of the 17 double heterozygotes, there were 5 of IVS?nt654/CD41?42(29.4%), 3 of CD17/CD41?42(17.6%), 3 of TATA?nt28/CD41?42(17.6%), 2 ofβE/IVS?nt654(11.6%); CD17/TATAnt?28, IVS?nt654/CD17, IVS?nt654/CD1?1, CD71?72/IVS?nt654 were respcetively one (5.9%). The Hb in the 27 cases were all under 90.0g/L, the average were 58.8g/L; the mean MCV were 65.0fl, brittleness were all under 60%.Conclusion:the type of the gene mutation in β?thalassemia intermedia and major were multifarious, clinical symptom are various in different gene type, the most patients have middle or heavy anemia, the result of hemotological and biochemical examination are obviously change, and life were keep by blood transfusion. We should do well in prenatal diagnosis to prevent the child of β?thalassemia major form borning.

关 键 词：Β地中海贫血 纯合子 双重杂合子 反向点杂交 

分 类 号：R556[医药卫生—血液循环系统疾病]