摘要
目的调查广州地区儿童地中海贫血(地贫)的发生率及其中国人常见发病基因的分布特征。方法对4990例广州地区儿童进行以全自动凝胶电泳为主的地贫血液学检查,并利用以缺口PCR(gap-PCR)为原理的单管多重PCR方法、PCR结合反向斑点杂交(PCR-RDB)法分别对筛查出的287例患儿(其中α地贫103例、β地贫177例、α合并β7例)进行中国人常见发病基因的诊断分析。结果(1)在4990人中,检出α地贫427人,发生率为8.56%;检出β地贫562人,发生率为11.26%;α合并β7人,发生率为0.14%。(2)进行基因分析的110例α地贫(包括α合并β的7例)全部都是缺失型,其中东南亚缺失型(--SEA)占72.80%,右侧缺失型(-α3.7)占18.38%,左侧缺失型(-α4.2)占8.82%。进行基因分析的184例β地贫有181例得到确诊,共检出10种突变基因,22种基因型,最多见的前5种依次是:CD41-42(45.71%),IVS-Ⅱ-654(25.79%),CD17(14.03%),TATbox-28(8.15%),CD71-72(3.17%)。结论广州地区是国内α和β地贫发生率较高和β地贫基因背景最复杂的地区,在地贫高发区应加强对儿童人群进行地贫的血液学筛查和常见基因的诊断。
Objeαive： To investigate the incidence of thaiassemia （thai） and the distribution of the Chinese common thai -associated genes in children in Guangzhou region. Methods ： Samples from 4990 children in Guangzhou region were deteαed for α - thai or β - thai by means of hematologic examinations such as fully automatic hemoglobin agarose gel eleαrophoresis mainly. Then 287 （ including 103 with α - thai and 177 with β - thai as well as 7 with both α - thai and β - thai） of the positive samples were diagnosed as α - thai by means of ＂a single tube multiplex PCR based the gap PCR principle＂ and as β - thai with PCR - RDB method for common 18 β- thai gene mutations in Chinese. Results： （ 1 ） Among the 4990 children , carriers were screened as follows ： 427 were α - thai and 562 β- thai and 7 bother - thai and β- thai , which meant the incidence of α - thai was 8.56% and that of β- thai was 11.26%, that of bother -thai and β -thai was 0. 14%. （2） All 110 α -thai carriers （including 7 with both α -thai and β -thai） diagnosed by genic deteαion were identified as gene deletions of which the constituent types were as follows by calculated with chromosome： - -^SEA was 72. 80%, - α^3.7 was 18. 38% and - α ^4.2 was 8. 82%. In all 184 carriers deteαed by genie deteαion for β - thai, 10 different β -thai mutations which made up 22 kinds of genotypes were identified Among the 181 diagnosed carriers. The most five commonest β -thai gene mutations were as follows： CD41 -42 （45.71%）, IVS - Ⅱ -654 （25. 79% ）, CD17 （ 14. 03% ）, TAT box -28 （8. 15% ）, CD71 -72 （3.17%）. Conclusion： Guangzhou region is one of the areas with high risk ofα -thai and β -thai, where the β - thai genie situation is the most complex in China. So it is recommended that more attention should be paid to deteα the car- tiers of thai in childhood by hematologic screening and common genie diagnosis in the area with high risk of α - thai and β - thai.
出处
《中国优生与遗传杂志》
2007年第6期28-31,共4页
Chinese Journal of Birth Health & Heredity
关键词
地中海贫血
筛查
基因分析
儿童
广州
Thaiassemia
Screen
Gene analysis
Children
Guangzhou
