Reference typing report for complement component C3

被引:0
|
作者
Rittner, C
Bellavia, D
Geserick, G
Frank, A
Stradmann-Bellinghausen, B
机构
[1] Univ Mainz, Inst Rechts Med, D-55131 Mainz, Germany
[2] Univ Palermo, Ist Patol Gen, I-90133 Palermo, Italy
[3] Humboldt Univ, Inst Legal Med, Berlin, Germany
关键词
C3; polymorphism; high-voltage gel electrophoresis; molecular basis of variants;
D O I
10.1159/000019081
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
A comparison of five C3 variant samples has been performed by conventional high-voltage gel electrophoresis in three laboratories (Palermo, Berlin and Mainz). Local designation was shown within SD = +/- 0.75 mm migration distance in the Mainz laboratory, Methodological modifications by laboratories were not accounted for (cooling temperature, relative mobilities between runs). In parallel, all reference samples were also sequenced after exon-specific amplification. As a result, two variants with identical final designations and two variants with different mobilities were shown to conform at the molecular basis exhibiting an amino acid exchange that causes the corresponding change in relative mobility as compared to normal C3F and C3S.
引用
收藏
页码:264 / 267
页数:4
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