在人类胱抑素C基因（CST3）编码区检测到的丙氨酸/苏氨酸变异表现为SstII多态性。
An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a SstII polymorphism.
作者信息
Balbín M, Grubb A, Abrahamson M
机构信息
Department of Clinical Chemistry, University of Lund, University Hospital, Sweden.
出版信息
Hum Genet. 1993 Sep;92(2):206-7. doi: 10.1007/BF00219694.
PMID:8103758
Abstract
A DNA variation in the coding region of the human cystatin C gene has been detected by direct sequencing. The polymorphism, a G/A transition, leads to an Ala/Thr variation in the penultimate amino acid of the signal peptide. The base substitution results in the loss of a SstII restriction site, thus allowing the design of a rapid polymerase chain reaction assay for analysis of this polymorphism in the population.
摘要
通过直接测序检测到人类胱抑素C基因编码区存在一个DNA变异。该多态性为G/A转换，导致信号肽倒数第二个氨基酸由丙氨酸变为苏氨酸。碱基替换导致SstII限制性酶切位点丢失，从而能够设计一种快速聚合酶链反应检测方法，用于分析人群中的这种多态性。
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