| Autor: |
Zhen-Min, Ren, Wei-Wei, Xiao, Si-Xi, Liu, Yong-Qiu, Liu, Bing, Li, Yun-Sheng, Chen |
| Rok vydání: |
2019 |
| Předmět: |
|
| Zdroj: |
Zhongguo shi yan xue ye xue za zhi. 27(4) |
| ISSN: |
1009-2137 |
| Popis: |
To analyze the genotype and hematological characteristics of children with αβ-thalassemia in Shenzhen area of China.The erythrocyte parameters and hemoglobin components of the children were determined by blood routine examination and capillary electrophoresis (CE). Reverse dot blot (RDB) -polymerase chain reaction (PCR) was used to determine gene mutations in α- and β-thalassemia children. The Gap-PCR was used to determine the gene deletion of α-thalassemia children，while specimens suspected HKαα were determined with nested PCR.Total of 29 complex genotypes were detected from 74 cases of αβ-thalassemia, among which 1 case was determined as β-thalassemia with αααanti4.2/αα and 5 cases were double heterozygous β-thalassemia combining α-thalassemia with intermediate phenotype. 1 case of β-28/βcap+40-43 double heterozygotes combined with --The genotypes of αβ-thalassemia in Shenzhen area of China are complex and diverse. The common complex genotypes are similar to those of simple β-thalassemia. If the genotype and phenotype are not consistent, the existence of rare genotype should be considered.小儿αβ复合型地中海贫血基因型和表型分析.分析深圳地区小儿αβ复合型地中海贫血的基因型以及血液学特征.采用血常规和毛细管电泳对患儿红细胞参数和血红蛋白组分进行分析，采用反向点杂交（RDB）技术检测α和β地中海贫血基因点突变，应用跨越断裂点PCR（Gap-PCR）法检测α缺失型地中海贫血和α三联体，巢式PCR检测疑似HKαα地中海贫血的样本.在74例αβ复合型地中海贫血中共计检出29种复合基因类型，其中1例β地中海贫血合并αααanti4.2/αα和5例双重杂合β地中海贫血复合α地中海贫血有中间型地中海贫血的表型，1例β-28/βcap+40-43双重杂合合并--深圳地区αβ复合型地中海贫血的基因类型复杂多样，常见的复合类型血液学指标同单纯性β地中海贫血相似，如果出现不相符的情况，要考虑稀有地中海贫血的存在. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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