López-Larrea C, Gonzalez-Roces S, Peña M, Dominguez O, Coto E, Alvarez V, Moreno M, Hernandez O, Burgos-Vargas R, Gorodezky C
Department of Immunology, Hospital Central de Asturias, Oviedo, Spain.
Hum Immunol. 1995 Jul;43(3):174-80. doi: 10.1016/0198-8859(94)00156-k.
The aim of this study was to investigate the contribution of the different B27 subtypes in the Mexican Mestizo population with juvenile and adult AS. No differences in the distribution of B27 subtypes were found between both populations, B2705 being the predominant subtype followed by B2702. Transracial gene mapping was performed in order to find out the origin of the B27 alleles of the Mexican Mestizos. A PCR with SSOPs was used to analyze the polymorphism in exons 2 and 3 of HLA-B27 and HLA-C related alleles. This population shares with the Spanish Caucasians B2705 and B2702, which are absent in Central and South American Indians. AS and healthy Mexican mestizo donors were analyzed to ascertain B27/Cw haplotypes. The B27/Cw linkage arrangements seen in mestizos are similar to those reported for Caucasian Spaniards with three different haplotypes positively associated with AS in both populations, B2705/Cw0102, B2705/Cw02022, and B2702/Cw02022, suggesting that B27 in Mexicans may be due to a recent Caucasoid admixture with the Spanish genes. Finally, a strategy for sequence analysis of exons 2 and 3 from genomic DNA of HLA-B27 alleles was developed. A novel HLA-B27-like allele typed serologically as B27 was identified and sequenced by this method in a healthy Mexican mestizo, corresponding to the B7301 variant found with low frequency in different populations. Analysis of the association of B7301 to AS would require an extensive study in different populations and could provide insights into the molecular structure of the alleles involved in the disease.
本研究的目的是调查不同B27亚型在患有青少年和成人强直性脊柱炎(AS)的墨西哥混血人群中的作用。在这两个人群之间未发现B27亚型分布的差异,B2705是主要亚型,其次是B2702。进行了跨种族基因定位以查明墨西哥混血儿B27等位基因的起源。采用带有序列特异性寡核苷酸探针(SSOPs)的聚合酶链反应(PCR)分析HLA - B27和HLA - C相关等位基因外显子2和3中的多态性。该人群与西班牙高加索人共有B2705和B2702,而中美洲和南美洲印第安人则没有这两种亚型。对AS患者和健康的墨西哥混血捐赠者进行分析以确定B27/Cw单倍型。在混血儿中看到的B27/Cw连锁排列与报道的西班牙高加索人相似,在这两个人群中都有三种不同的单倍型与AS呈正相关,即B2705/Cw0102、B2705/Cw02022和B2702/Cw02022,这表明墨西哥人的B27可能是由于最近与西班牙基因的高加索人混合。最后,开发了一种从HLA - B27等位基因基因组DNA中外显子2和3进行序列分析的策略。通过这种方法在一名健康的墨西哥混血儿中鉴定并测序了一个血清学类型为B27的新型HLA - B27样等位基因,它对应于在不同人群中低频发现的B7301变体。分析B7301与AS的关联需要在不同人群中进行广泛研究,并且可以深入了解该疾病相关等位基因的分子结构。