【摘要】 目的　调查广西西林县新生儿重型β０ 地中海贫血（ 地贫）发生率及其常见的基因突变类型。方法　对１９９１ 年５ 月～１９９７ 年１２ 月在西林县医院妇产科出生的所有２４２３ 名新生儿的脐血采用聚丙烯酰胺凝胶电泳进行β０ 地贫筛查；采用聚合酶链反应和斑点杂交技术进行基因突变型分析。结果　２４２３ 名新生儿中检出重型β０ 地贫７ 例，占全部新生儿的０．２９％ 。其中３ 例基因突变型为ＣＤ１７／ＣＤ１７；２ 例ＣＤ１７／ＣＤ４１４２ ；１ 例ＣＤ４１４２／ＣＤ４１４２ 及１ 例ＣＤ１７／ＩＶＳⅠ１。结论　调查结果为在桂西地区开展产前诊断提供有益资料。聚丙烯酰胺凝胶电泳筛查法简单、可靠，适宜我国基层医院应用。更多还原

【Abstract】 Objective To investigate the incidence of β 0 thalassemia in newborns in Xilin county of Guangxi and identify the common type of the gene mutation. Methods Cord blood samples from successive 2?423 newborns were screened for β 0 thalassemia by PAGE, and the gene mutation was assayed by PCR and dot blot hybridization.Results Seven cases (0.29%) of β 0 thalassemia were revealed in the 2?423 newborns. The gene mutation types were as follows: three cases of CD17/CD17, two of CD17/CD41 42,one of CD41 42/CD41 42 and one of CD17/IVS Ⅰ 1.Conclusion These data might be of help to prenatal diagnosis of β 0 thalassemia in Guixi district.更多还原