Premium
The human complement C8G gene, a member of the lipocalin gene family: polymorphisms and mapping to chromosome 9q34.3
Author(s) -
DEWALD G.,
CICHON S.,
BRYANT S. P.,
HEMMER S.,
NÖUTHEN M. M.,
SPURR N. K.
Publication year - 1996
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1996.tb01192.x
Subject(s) - genetics , gene , biology , c4a , chromosome , gene family , complement (music) , genome , phenotype , complementation
Summary Complement component C8 is a plasma glycoprotein consisting of three nonidentical polypeptide chains (α, β, γ) which are encoded by three separate genes (C8A, C8B, C8G). The γ chain whose functional role remains undefined is not related to any other complement protein but is a member of the lipocalins, a family of proteins that bind small hydrophobic ligands. The present report describes the first known polymorphisms for the human C8G gene, namely one polymorphic site in exon 1 (207T/G) and two polymorphic sites in intron 1 (213 + 37G → A; 213 + 65del3). Specific typing can be performed using simple polymerase chain reaction‐based assays. C8G genotyping in eight CEPH reference families demonstrated that C8G is closely linked to a series of marker loci located in the most telomeric region of chromosome 9q. Multipoint analysis placed C8G with 1000:1 support distal to D9S207. C8G is thus located at 9q34.3. Remarkably, this chromosomal region contains at least four other lipocalin genes.