非缺失型α珠蛋白生成障碍性贫血杂合子及纯合子基因型与表型分析  

Genotype and Phenotype Analysis on Heterozygote and Homozygote of Nondeletional α Thalassemia

作　　者：朱春江[1,2] 丁晖[3] 郑海清[3] 欧维琳[2] 劳一平[4] 陈萍[1] 

机构地区：[1]广西医科大学第一附属医院儿科,南宁530021 [2]桂林医学院附属医院儿科,广西桂林541001 [3]桂林医学院附属医院围产医学研究室,广西桂林541001 [4]桂林医学院附属医院产科,广西桂林541001

出　　处：《实用儿科临床杂志》2012年第15期1157-1159,共3页Journal of Applied Clinical Pediatrics

基　　金：教育部"春晖计划"项目(Z2005-2-45005);广西科技厅自然基金(桂科自0899013);广西卫生厅课题资助(Z2004103);桂林市科技研究与技术开发项目(20120121-1-12)

摘　　要：目的对非缺失型α珠蛋白生成障碍性贫血(简称地贫)杂合子及纯合子的基因型和表型进行分析,并与缺失型α地贫作比较。方法对检测标本采用血常规、血红蛋白电泳、Multi-PCR法检测--SEA、-α3.7、-α4.2,PCR-反向斑点杂交法检测αCS、αQS、αWS。将非缺失型α地贫杂合子设为A组,α地贫2(-α3.7或-α4.2杂合子)设为B组,α地贫1(--SEA杂合子)设为C组,将3组平均红细胞容积(MCV)、平均红细胞血红蛋白(MCH)水平进行统计学分析。结果确诊的28例非缺失型α地贫中,24例为杂合子,临床表现为静止型-轻型,3例为αCSα/αQSα,1例为αCSα/αWSα,临床表现为轻型-中间型;B组、C组分别为53例和51例。共检出32条非缺失型α地贫的等位基因,其中αCS15条,αQS15条,αWS2条。3组MCV比较:A组与B组t=4.700 8,P=0.000 0;A组与C组t=8.333 2,P=0.000 0;B组与C组,t=16.189 7,P=0.000 0。3组MCH比较:A组与B组t=3.810 2,P=0.000 3;A组与C组t=7.610 2,P=0.000 0;B组与C组,t=15.759 2,P=0.000 0。结论αCS、αQS、αWS是桂林地区常见的非缺失型α地贫基因突变类型,其表型较α地贫2明显,在临床诊断和遗传咨询中应加以重视。Objective To analyze the genotype and phenotype of both the heterozygote and homozygote of nondeletional α thalassemia and to compare them with deletional αtbalassemia. Methods Blood samples from the participants were used for blood smear tests and hemoglobin eleetrophoresis, and to analyze 3 - globin gene deletions （ - - SEA, - α37, -α4.2 ） by Multi - polymerase chain reaction and 3 - globin gene nondeletion （αcs,αQs,αws） by reverse dot blot. On the basis of the results, participants were categorized into 3 groups： the nondeletional thalassemia heterozygote group （ Group A） , thalassemia 2 group （ Group B, heterozygote of - α3.7 α - α4.2 ） , and thalassemia 1 group （Group C, heterozygote of - -SEA）. Statistical analysis was performed to compare MCV and MCH among the 3 groups. Results There were 28 cases of nondeletional thalassemia,in which 24 cases were heterozygote with silent or mild phenotypes,3 cases were αcsα/αQSα and 1 case was αCSα/αWSα with mild or HbH -like phenotypes. There were 53 cases and 51 cases in Group B and Group C,respectively. There were 32 nondeletional thalassemia alleles, among which 15 items were αcs, 15 items were αQS, and the rest 2 items were αws. The results for the comparison of the mean MCV between pairs of groups were as follows ： Group A vs Group B, t = 4. 700 8, P = 0. 000 0 ; Group A vs Group C, t = 8. 333 2, P = 0. 000 0 ; Group B vs Group C,t = 16. 189 7, P = 0. 000 0. The results for the comparison of the mean MCH between pairs of groups were as follows： Group A vs Group B, t = 3. 810 2,P = 0. 000 3 ; Group A vs Group C, t = 7. 610 2, P = 0. 000 0 ; Group B vs Group C, t = 15. 759 2,P = 0. 000 0. Conclusions αcs, αQs and αws are common nondeletional thalassemia in Guilin area. Their phenotypes are more severe than thalassemia 2. The detections of nondeletional thalassemia should be to the diagnosis and genetic counseling.

关 键 词：α珠蛋白生成障碍性贫血 非缺失型 基因突变 表型 

分 类 号：R725.5[医药卫生—儿科]