一种通过等位基因特异性聚合酶链反应鉴定镰状细胞贫血突变的改良方法。
A modified approach to identification of the sickle cell anemia mutation by means of allele-specific polymerase chain reaction.
作者信息
Birikh K R, Plutalov O V, Schwartz E I, Devi P S, Berlin Y A
机构信息
M.M. Shemyakin Institute of Bioorganic Chemistry, Russian Academy of Sciences, Moscow.
出版信息
Hum Mutat. 1992;1(5):417-9. doi: 10.1002/humu.1380010511.
PMID:1301951
Abstract
The allele-specific PCR approach has been modified by introducing a second mismatch at the 3'-penultimate link of the primer and used to identify the sickle cell anemia mutation (A-->T transversion in the sixth codon of the human beta-globin gene causing Glu-->Val substitution in the protein), thus obviating the problem of an interpretationally ambiguous 3'-terminal mismatch including T residue.
摘要
等位基因特异性PCR方法已通过在引物的3'倒数第二个连接处引入第二个错配进行了改进，并用于鉴定镰状细胞性贫血突变（人类β-珠蛋白基因第六密码子中的A→T颠换，导致蛋白质中Glu→Val取代），从而避免了包括T残基在内的3'末端错配导致的解释模糊问题。
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