广东河源客家人群αβ复合型地中海贫血基因型和表现型分析
Analysis of genotype and phenotype of αβ-thalassemia from Hakka people of Heyuan in Guangdong Province
曾祥兴 1刘惠敏 1廖悦余 1王葭 1刘平 1何彩华1
作者信息
- 1. 517000,广东省河源市妇幼保健院检验科
- 折叠
摘要
目的 通过对广东河源客家人群250例αβ复合型地中海贫血(αβ复合型地贫)基因型的检测及血液学表型的分析,了解其基因类型和血液学特征以及发生率.方法 采用血常规联合毛细血管电泳对11 398例患者进行地贫筛查,应用缺口PCR(Gap-PCR)技术检测α-地中海贫血(α-地贫)缺失突变,同时应用反向点杂交(reverse dot blot,RDB)技术检测β-地中海贫血(β-地贫)和α-地贫基因点突变.结果 在11 398例样本中检出250例αβ复合型地贫,群体发生率为2.00％ (250/11398),其中以--SEA/-αα复合βCCDM1-42/βN,--SEA/-αα复合βIVSⅡ-654/βN,--SEA/-αα复合β-28/βN3种基因型组合例数最多,分别为50例、43例和27例,还有1 1例Hb H病复合β地贫.共检出39种不同的基因型组合.不同年龄段间分析显示Hb水平无显著差异(P=0.235),但是平均红细胞体积(mean corpuscular volume,MCV)及平均红细胞血红蛋白含量(mean corpuscular hemoglobin,MCH)之间差别有统计学意义(P=0.002;P=0.004),提示＜18岁年龄组比≥1 8岁年龄组贫血较重.男性Hb水平要高于女性(P =0.006).不同基因型组合MCV和MCH差异均具有统计学意义(P均为0.000).结论 αβ复合型地贫的发生率较高,且缺乏特异性的血液学指标.对β-地贫筛查阳性的病人应同时进行α和β地中海贫血基因诊断,以减少αβ复合型地贫漏检的可能,以便进一步正确地指导遗传咨询和产前诊断.
Abstract
Objective To investigate the genotype,hematological characteristics and incidence of αβ-thalassemia in Heyuan of Guangdong province.Methods 11 398 cases of patients from Heyuan of Guangdong province were screened by routine blood testing and hemoglobin (Hb) electrophoresis analysis to detect thalassemia.The deletion of α-thalassemia gene was determined by gap-PCR,while the gene mutation of β-thalassemia and α-thalassemia were determined by reverse dot blot (RDB) assay.Results Among 11 398 cases,250(2％) were identified to be αβ-thalassemia.The most prevalence genotype was--SEA/-αα combined with βCD41-42 / βN,--SEA /-αα combined with βIVS-Ⅱ-654 / βN,--SEA/-αα combined with β-28/βN,the number of which is 50,43 and 27,respectively.In addition,there were 11 cases of HbH combined with β-thalassemia.As a whole,Thirty-nine genotypes of α-thalassemia combined with β-thalassemia were detected.There were significant differences between ＜ 18 age group and ≥ 18 age group in MCV and MCH (P =0.002;P =0.004),but there were no significant differences between age groups in Hb levels (P =0.235).In addition,there were significant differences between different genders in Hb levels (P =0.006).Significant differences were found between three different combinations of genotype in MCV and MCH (P =0.000,respectively).Conclusion αβ-thalassemia has relatively high incidence and lacks specific hematological marker for diagnosis.Patients with positive screening result of should be given gene diagnosis of α-thalassemia and β-thalassemia to avoid missed identification and to provide proper genetic counseling and prenatal diagnosis of this disease.
关键词
地中海贫血/基因诊断/基因型/表现型Key words
Thalassemia/Gene diagnosis/Genotype/Phenotype引用本文复制引用
出版年
2017
NETL
NSTL
维普
万方数据