摘要
为确定云南β－地中海贫血的基因类型，从云南省德宏州、西双版纳州等地采集临床诊断为β－地中海贫血的病例２４例，经提取ＤＮＡ，聚合酶链反应和非同位素（加强化学发光，ＥＣＬ）标记寡核苷酸探针点杂交进行基因诊断．结果：在已完成杂交的９例中有４例为最常见的突变Ｃｏｄｏｎｓ４１～４２，即编码子４１～４２发生框架位移，减少ＴＴＣＴ四个硷基，这与国内广东、四川的研究相似．
4 cases ofβ-thalassemia from Dehong and Xishuanbanna regions were studied usingmethods of DNA extraction,polymerase chain reaction(PCR)amplication and non-radio la-belling(ASO)prog dot-blot hybrization technique to make genomic diagnosisThere are mainly ten different point mutations and frameshifts observed among China.In this group,4 of 9 patients were found to be the commonest mutation,that is the frameshifts at codon 41～42 and loses 4 bases of TTCT.The data are very similar to those of otherinvestigators in Guangdong and Sichuan.
出处
《昆明医学院学报》
1995年第1期41-44,共4页
Journal of Kunming Medical College
