Immunoglobulin enhancer HS1,2 polymorphism: a new powerful anthropogenetic marker.
The human HS1,2 enhancer of the immunoglobulin (Ig) heavy chain 3' enhancer complex plays a central role in the regulation of Ig maturation and production. Four common alleles HS1,2-A*1, *2, *3, *4 are directly implicated with the transcription level and at least one of them, HS1, 2-A*2, seems to be related to immune disorders, such as coeliac disease, herpetiform dermatitis and Berger syndrome. Given their clinical significance it is of interest to know the distribution of HS1,2-A variants in populations from different continents, as well as to determine whether the polymorphism is associated to specific evolutionary factors. In this paper we report the distribution of the HS1,2-A polymorphism in 1098 individuals from various African, Asian and European populations. HS1,2-A*3 and HS1,2-A*4 alleles are at their highest frequencies among Africans, and HS1,2-A*2 is significantly lower in Africans in comparison with both Europeans and, to a lesser extent, Asians. Analysis of molecular variance of the allele frequencies indicates that the HS1,2-A polymorphism can be considered as a reliable anthropogenetic marker.
Giambra
V
V
Dipartamento Biologia E. Calef, Università di Roma Tor Vergata, Viale della ricerca scientifica, 00133 Rome, Italy.
Martínez-Labarga
C
C
Giufré
M
M
Modiano
D
D
Simporé
J
J
Gisladottir
B K
BK
Francavilla
R
R
Zhelezova
G
G
Kilic
S S
SS
Crawford
M
M
Biondi
G
G
Rickards
O
O
Frezza
D
D
D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D004742:Enhancer Elements, Genetic; D005787:Gene Frequency; D050438:Genes, Immunoglobulin Heavy Chain; D005819:Genetic Markers; D005828:Genetics, Population; D006801:Humans; D008957:Models, Genetic; D011110:Polymorphism, Genetic; D044465:White People / Q000235:genetics
D005819:Genetic Markers