论文部分内容阅读
研究目的研究儿童β地中海贫血的基因突变类型、发生率，马利兰、补肾生血药物对β地中海贫血的治疗效果。研究方法：经临床确诊重型β地中海贫血30例的56条染色体，用聚合酶链反应技术和寡核苷酸斑点杂交方法分析该病的基因突变类型和发生率。用马利兰治疗重型β-地贫13例，中药补肾生血药物治疗6例。研究结果：本组基因突变类型的染色体条数为Codon41－42（－TTCT）23，Codon17（A－T）14，Codon71－72（＋A）7，－28（A－G）5，－29（A－G）8，IVS－Ⅱ－654（C－T）3，IVS－Ⅰ—5（G－T）1。马利兰治疗组中13例，8例有效，补肾生血药物治疗6例，5例有效，有效病例血红蛋白、红细胞、网织红细胞增加。结论 本组7种基因突变类型，其中以Codon41－42为最高，占41％，马利兰和中药生血药物治疗β地贫有一定疗效。
Objective To study the types and incidence of β-thalassemia gene mutations in children and the therapeutic effects of Marilyn’s and Bushen Shengsheng drugs on β-thalassemia. Methods: Fifty-six chromosomes from 30 cases of severe β-thalassemia were detected by polymerase chain reaction and oligonucleotide dot blot hybridization. The types and incidence of gene mutations were analyzed. Thirteen cases of treatment of severe β-thalassemia with Malilan and 6 cases of traditional Chinese medicine of supplementing kidney and blood. Results: The number of chromosomes in this group was Codon 41-42 (-TTCT) 23, Codon 17 (A-T) 14, Codon 71-72 (+ A) 7, -28 (A-G) 5, -29 A-G) 8, IVS-II-654 (C-T) 3, IVS-I-5 (G-T) In the Maryland treatment group, 13 cases were effective, 8 cases were effective, 6 cases were treated by Bushenhengyao drug, 5 cases were effective, and hemoglobin, erythrocyte and reticulocyte were increased in effective cases. Conclusions This group of 7 kinds of gene mutation types, of which Codon41-42 is the highest, accounting for 41%, Maryland and Chinese medicine blood β-thalassemia have a certain effect.