摘要
目的检验泸州地区β-珠蛋白生成障碍性贫血(β-地贫)患儿及其父母地贫基因,寻找泸州地区引起该病的主要致病基因突变位点,并探讨其与临床病变程度的关系。方法采集40例β-地贫患儿及其父母外周血,根据临床表现和实验室检查分为重型组(14例)和非重型组(26例),提取DNA,采用PCR和DNA反向点杂交法进行β-地贫基因突变位点分析。结果 40例β-地贫患儿共检测出7种基因突变类型,有14种基因组合形式。其中以CD17(A→T)、CD41/42(-TTCT)和IVS-Ⅱ-654(C→T)最多见。14例重型β-地贫患儿中,突变纯合子8例,双重杂合子6例,其父母均为杂合子。结论β-地贫患儿基因突变符合遗传规律;重型β-地贫患儿基因型为纯合子或双重杂合子,其发病年龄早,输血间隔时间短,输血量大。
Abstract： Objective To test the genotypes in children with β - thalassemia and their parents in Luzhou region, in order to explore the relationship between gene mutation of β - thalassemia and clinical manifestations. Methods To study the regional distribution of β - thalas- semia in Sichuan province, the hematological study was made in the 14 gravis types and 26 non - gravis types of children and their parents, extracting peripheral blood deoxyribonucleic acid, applying polymerase chain reaction combined with reverse dot blot hybridization and testing common deletional β - thalassemia gene. Results Seven different mutations were identified, there were 14 different gene types. CD17 （ A→T） , CD41/42 （-TTCT） and IVS - 1I -654（C-→T） were the most frequent genetic mutation. In all the 14 samples of gravis types ,there were 8 cases of homozygote, 6 cases of dual heterozygotes,and their parents were heterozygotes. Conclusions The gene mutation of β - thalassemia children was consistent with heredity regularity. The genotype of gravis types are homozygote or dual heterozygote ,which attacks the chil- dren at an earlier,with a short,interval of blood transfusion and a higher dosage of blood transfusion.
出处
《实用儿科临床杂志》
CAS
CSCD
北大核心
2012年第3期194-196,共3页
Journal of Applied Clinical Pediatrics
作者简介
陈红英，女，副主任医师，硕士学位，研究方向为血液病，电子信箱chen0040955@163．com。
