Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components.

doi:10.1002/ajmg.1320550405

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Article

Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components.

American journal of medical genetics - 13 Feb 1995

Alvarez V, Coto E, Setién F, Spath P J, López-Larrea C

Abstract excerpt

DNA polymorphisms (RFLPs) of the human complement component C6, C7, and C9 genes were studied in three C7-deficient (C7D) families, one C6-deficient (C6D) family, and one C9-deficient (C9D) family. The 3 loci are closely linked on human chromosome 5. The haplotypes carrying the "silent" allele (C...

Topics

Alleles
Complement C6
Complement C7
Complement C9
Female
Haplotypes
Heterozygote
Humans
Male
Meningococcal Infections
Pedigree
Polymorphism, Restriction Fragment Length
Recurrence
Sepsis

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