摘要
用聚合酶链反应（ＰＣＲ）选择性扩增包括ＨｂＣＳ突变（ＴＡＡ→ＣＡＡ）位点在内的α＿２珠蛋白基因片段，利用与该点突变密切相关的天然Ｔｒｕ９１位点和由ＰＣＲ引物介导出的人工ＨｉｎｆＩ位点的变化可识别ＨｂＣＳ突变等位基因和野生型等位基因。ＰＣＲ产物直接经Ｔｒｕ９１或ＨｉｎｆＩ消化及电泳分析后即可对样品ＤＮＡ中是否存在ＨｂＣＳ突变及其基因型作出诊断。此法简便、省时，可用于基因筛查和产前诊断。
DNA fragrnent of the α2- globin gene sequences en-compassing the hemoglobin Constant Spring (Hb CS)mutation site (TAA→CAA) was amplified by the selec-tive amplification with specific oligonucleotide primers.The mutant allele was distinguished from the normal al-lele by digestion of polymerase chain reaction (PCR)products with restriction endonuclease that recognizenatural restriction site (Tru 91) or artificial restrictionsite (Hinf I), which is provided by the mismatchedprimer used in PCR. By using this method, the Hb CSmutation can be typed by analysing electrophoretic pat-tern of the PCR product digested with enzyme Tru 91 orHinf I. This nonradioactive method is simple, rapid anduseful for routine screening and prenatal diagnosis.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
1994年第8期401-403,共3页
Chinese Journal of Hematology
基金
全军"八五"重点课题
关键词
血红蛋白
地中海贫血
聚合酶链反应
Hemoglobin Constant Spring (Hb CS)α- thalassemia Polymerase chain re-action (PCR ) Gene diagnosis
