摘要
目的了解贵港地区β-地中海贫血的基因型构成情况及其分布,为制定贵港地区β-地中海贫血防治计划,有效降低β-地中海贫血的发病率提供参考。方法应用双重PCR结合反向斑点杂交技术对贵港地区507例经筛查至少符合HbA2增高、HbF增高或者发现HbE带三项之一的样本进行β-地中海贫血8种常见和9种稀少的突变点进行基因分析。结果在受检的507例样本中共检出杂合子486例,纯合子11例,双重杂合子10例。检出18种基因组合类型。其中CD41-42、CD17、CD-28、IVS-Ⅱ-654、CD71-72、βE是贵港地区最主要的6种β-地中海贫血基因类型,分别占56.02%、20.71%、7.89%、4.14%、2.96%、2.17%。这6种突变点占全部检出突变频率的97.72%。结论贵港地区β-地中海贫血以中国人发病率高的突变类型为主,发现稀少的突变类型病例。
Objective To acquaintance the composing and distribution of β - thalassemia genotypes, so as to provide basis for - thalassemia prevention plan for Guigang and to help drop β - thalassemia incidence effectively. Methods There were 507 cases of specimens in Guigang, which at least met one of the following three criteria.. HbA2 inceasing, HbF increasing, having HbE. Re- sults In 507 specimens, there were 486 cases of heterozygous, 11 cases of homozygous, and 10 cases of double heterozygous, re- spectively. 18 gene types of β - thalassemi had been found in Guigang, and 6 major gene types among them were CD41-42,CD17, CD-28,IVS-II-654,CD71-72, and J3E, accounted for 56.02%,20.71%,7.89%,4. 14% ,2. 96%, and 2. 17%,respectively. The a- bove 6 types of mutations covered 97.72 % of all the mutations detected. Conclusion The major mutation types of β - thalassemia in Guigang area were the types with high incidence in China. There were few cases taking unusual mutation detected.
出处
《国际检验医学杂志》
CAS
2013年第3期325-326,共2页
International Journal of Laboratory Medicine
