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目的:调查广东省韶关市城镇人群中的α和β地中海贫血(简称地贫)的携带率、基因突变类型及其分布特征。方法:连续收集10 0 6例父母双方或一方为韶关市户籍人口的新生儿脐带血及15 97例韶关市城镇人群婚检育龄成人的外周血分别进行α和β地贫调查;所有样品均进行RBC参数和血红蛋白电泳分析,以HbBart’s作为诊断α地贫的阳性参考指标;以MCV <80fl和HbA2≥3.5 %为β地贫阳性表型指标。α和β地贫的确诊采用基因分析,对所有脐血HbBart’s阳性样品用gap PCR和RDB法进行α地贫基因分型,并在所有被检样品中进行两种常见静止型α地贫基因( α3 .7和α4.2 )的分子筛查。β地贫阳性样品采用RDB法进行18种中国人常见及少见β地贫基因诊断;未知突变采用PCR SSCP和DNA直接测序法进行分析。此外,为调查β地贫复合α地贫的存在状况,所有经基因分析确诊的β地贫阳性样品均进行了中国人4种常见α地贫基因的分析。结果:在10 0 6例脐带血样本中,检出HbBart’s阳性样品6 4例;经基因分析,10 0例被确定了α地贫基因型(含10 5个突变等位基因,其中 SEA/5 4例、α3 .7/43例、α4..2 /5例、αCSα/3例、未见αQSα/基因)。值得注意的是,有38例α3 .7/αα和α4..2 /αα基因携带者检出自HbBart’s阴性样品。因此,韶关市户籍人群中?
OBJECTIVE: To investigate the prevalence, gene mutation types and distribution characteristics of α and β thalassemia (Thalassemia) in urban population in Shaoguan City, Guangdong Province. Methods: A total of 106 cases of neonatal umbilical cord blood from one or two parents of Shaoguan City and 1597 cases of urban-age adults of child-bearing age from Shaoguan City were enrolled in this study. Parameters and hemoglobin electrophoresis analysis, with HbBart’s as a positive reference for the diagnosis of alpha thalassemia; MCV <80fl and HbA2 ≥ 3.5% for beta-thalassemia positive phenotype. Confirmation of Alpha and Beta Thalasseias By genetic analysis, all cord blood HbBart’s positive samples were genotyped for alpha thalassemia using gap PCR and RDB methods and two common resting alpha thalassemia genes α3 .7 and α4.2) molecular screening. β-thalassemia positive samples were detected by RDB method in 18 common Chinese and rare β-thalassemia genes. Unknown mutations were analyzed by PCR SSCP and DNA direct sequencing. In addition, in order to investigate the presence of β-thalassemia α thalassemia, all the β-thalassemia positive samples confirmed by genetic analysis were analyzed for 4 common α-thalassemia genes in Chinese. Results: Sixty-four cases of HbBart’s positive samples were detected in 106 cases of cord blood samples. According to the genetic analysis, 10 cases of α-thalassemia were found (including 105 alleles with SEA / 5 4 cases, α3 .7 / 43 cases, α4..2 / 5 cases, αCSα / 3 cases, no αQSα / gene). It is noteworthy that 38 cases of α3 .7 / αα and α4..2 / αα gene carriers were detected from HbBart’s negative samples. Therefore, the household population in Shaoguan City?