摘要
经血液学方法检出的湛江地区β地贫杂合子３６例，用聚合酶链反应扩增其β珠蛋白基因，再经反向点杂交确定基因突变类型。结果表明共有５种β地贫基因，其中ＣＤ４１－４２（－ＴＣＴＴ）２１例，占５８３％；ＩＶＳ２ｎｔ６５４（Ｃ→Ｔ）９例，占２５％；β－２８（Ａ→Ｇ）３例，占８３％；ＣＤ１７（Ａ→Ｔ）２例，占５６％；ＣＤ７１－７２（＋Ａ）１例，占２８％。本研究结果对在本地区开展地贫基因分析、婚姻指导和产前诊断具有重要意义。
The mutation types of 36 heterozygous β-thalassemia patients in Zhanjiang indicated by hemotological methods were determined by polymerast chain reation and then reverse dot blot. The results showed that there were 5 kinds of β-thalassemia genes in the patients,among them,21 cases with CD41-42(-TCTT),9 cases IVS2nt654(CT),3 cases β-28(A G),2 cases CD17(AT) and 1 case CD71-72(+A),accounting for 58.3%, 25%, 8.3%, 5.6% and 2.8% of the total respectively. The data of the present study are important for thalassemia gene analysis ,marriage guide and prenatal diagnosis in this area.
出处
《中国优生与遗传杂志》
1999年第2期24-25,共2页
Chinese Journal of Birth Health & Heredity
