Single strand conformational polymorphism analysis of human CD1 genes in different ethnic groups

• Published in: Tissue antigens Vol. 53; no. 6; pp. 545 - 550
• Main Authors: Oteo, M., Parra, J.F., Mirones, I., Giménez, L.I., Setién, F., Martínez-Naves, E.
• Format: Journal Article
• Language: English
• Published: Copenhagen Munksgaard International Publishers 01.06.1999
• Subjects: Africa - ethnology; Africa, Northern; African Continental Ancestry Group - genetics; antigen presentation; Antigens, CD1 - genetics; Asian Continental Ancestry Group - genetics; CD1; CD1 antigen; DNA Mutational Analysis; Ethnic Groups - genetics; Europe - ethnology; European Continental Ancestry Group - genetics; Gene Frequency - immunology; histocompatibility locus HLA; Humans; Leukemia; MHC; polymorphism; Polymorphism, Restriction Fragment Length; Polymorphism, Single-Stranded Conformational; SSCP; Tanzania; Tumor Cells, Cultured; Africa, Northern; Europe; Africa
• ISSN: 0001-2815; 1399-0039
• DOI: 10.1034/j.1399-0039.1999.530604.x

CD1 molecules are able to present unusual antigens, lipids or glycolipids from mycobacterium cell walls to T lymphocytes. Previous studies have suggested that polymorphism of these genes is very limited, in contrast with classical major histocompatibility complex (MHC) antigen‐presenting molecules. Our aim was to study possible allelic variations of exons 2 and 3, encoding for the α1 and α2 domains, respectively, of human CD1A, ‐B, ‐C and ‐D genes. We analyzed genomic samples of unrelated, healthy individuals from different ethnic background: 70 Caucasians from Europe, 33 Black Africans (13 from Tanzania and 20 Zulus), 19 Caucasians from the Sahara and 44 Asian individuals. We have found CD1A to be a biallelic locus with a common allele which was present in the majority of the individuals studied. The second allele differed from the common one by a single‐point mutation, resulting in a change of Cys to Trp at position 52 in the α1 domain. This second allele was found in heterozygosis in 7 out of 70 Caucasians from Europe (allelic frequencies P=0.95 and q=0.05). In the Chinese population, we found the second allele present in heterozygosis in 19 from the 44 individuals studied, and we also found 6 homozygous individuals for the second allele (allelic frequencies P=0.64 and q=0.35). In addition, we detected a synonymous mutation (C to T transition) in codon 34 of CD1C exon 2 in 4 out of 20 Zulus and in 2 of the 13 Blacks from Tanzania.