A restriction fragment of the C2 gene is a unique marker for C2 deficiency and the uncommon C2 allele C2*B (a marker for type 1 diabetes).

doi:10.1172/JCI115545

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Article

A restriction fragment of the C2 gene is a unique marker for C2 deficiency and the uncommon C2 allele C2*B (a marker for type 1 diabetes).

The Journal of clinical investigation - 1 Dec 1991

Simon S, Awdeh Z, Campbell R D, Ronco P, Brink S J, Eisenbarth G S, Yunis E J, Alper C A

Abstract excerpt

There are three common C2 protein alleles in caucasians, C2*C, C2*B, and C2*Q0, with allele frequencies of 0.96, 0.03, and 0.01, as well as Sst I RFLP variants of 2.75, 2.7, 2.65, 2.55, and 2.4 kb, with frequencies of 0.017, 0.533, 0.358, 0.017, and 0.075. Thus, C2*C is informatively split by the...

Topics

Alleles
Complement C2
Diabetes Mellitus, Type 1
Genetic Markers
Haplotypes
Humans
Polymorphism, Restriction Fragment Length

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