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DNA polymorphism of the human complement component C7 gene in familial deficiencies

✍ Scribed by Eliecer Coto; Eduardo Martínez-Naves; Orlando Domínguez; Carlos López-Larrea


Publisher
Springer
Year
1990
Tongue
English
Weight
207 KB
Volume
85
Category
Article
ISSN
0340-6717

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✦ Synopsis


A C7 cDNA probe detecting a TaqI restriction fragment length polymorphism has been used to examine the segregation of the "silent allele" (C7*Q0) in two familial deficiencies. Carrier diagnosis in healthy children is possible when both parents are heterozygotes. Only one of these two families was informative. The "silent allele" is linked to different TaqI alleles in both families. This suggests that at least two different C7*Q0 alleles are present in our population. This paper gives a protocol for genetic studies of hereditary traits in which the C7 gene and other genes tightly linked to it are involved.


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Proteins were separated by prolonged isoelectric focusing in polyacrylamide gels, whereupon C2 bands were detected by a specific hemolytic assay. This was performed by treating the gel with iodine to increase C2 activity, and then developing C2 bands with an agarose gel overlay containing sensitized