The human complement C8G gene, a member of the lipocalin gene family: polymorphisms and mapping to chromosome 9q34.3

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. -->
ISSN: 1469-1809
0003-4800
DOI: 10.1111/j.1469-1809.1996.tb01192.x
Přístupová URL adresa: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::685147840d64775432b9a1b1bd351bc3
https://doi.org/10.1111/j.1469-1809.1996.tb01192.x
Rights: CLOSED
Přírůstkové číslo: edsair.doi.dedup.....685147840d64775432b9a1b1bd351bc3
Autor: Susanne Hemmer, Markus M. Nöthen, Nigel K. Spurr, S P Bryant, Sven Cichon, Georg Dewald
Rok vydání: 1996
Předmět:
Zdroj: Annals of Human Genetics. 60:281-291
ISSN: 1469-1809
0003-4800
DOI: 10.1111/j.1469-1809.1996.tb01192.x
Popis: Complement component C8 is a plasma glycoprotein consisting of three nonidentical polypeptide chains (alpha, beta, gamma) which are encoded by three separate genes (C8A, C8B, C8G). The gamma 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.
Databáze: OpenAIRE
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