A study of the human leukocyte antigen （HLA） genetic characteristics in the Zhuang, the largest ethnic population in China, would provide insight into Zhuang history and give a useful tool for disease associations, ...A study of the human leukocyte antigen （HLA） genetic characteristics in the Zhuang, the largest ethnic population in China, would provide insight into Zhuang history and give a useful tool for disease associations, transplantation, and anthropology. In the present study, we report the comprehensive HLA-A, HLA-B, HLA-C, and HLA-DRB1 alleles and haplotypes in the Zhuang population of southern China for the first time. A total of 13 HLA-A, 24 HLA-B, 22 HLA-C, and 18 HLA-DRB1 were identified in 104 Zhuang individuals. The frequencies of HLA-A＊11：01, A^＊02：07, A^＊24：02, A^＊02：03, and A^＊33：03 on A loci, B^＊15：02, B^＊58：01, B^＊46：01, and B^＊13：01 on B loci, C^＊03：04, C^＊08：01, C^＊01：02, C^＊03：02, and C^＊07：02 on C loci, and DRBl＊15：01, DRBl^＊16：02, DRB1^＊14：01, DRBl^＊15：02, and DRBI^＊03：01 on the DRB1 loci were 〉10%. The A^＊33：03-C^＊03：02-B^＊58：01-DRBl^＊03：01 and A^＊02：07-C^＊01：02- B^＊46：01-DRB1^＊14：01 haplotypes were predominant in the Zhuang. The phylogenetic tree, as well as the analysis of haplotypes, suggested that the Zhuang are genetically similar to southern Chinese populations, especially the Zhuang-Dong language-speaking populations, such as the Bouyei, Dai, and Maonan. Even though the Zhuang and southern Chinese populations shared common alleles and haplotypes, the Zhuang has maintained its unique genetic characteristics.展开更多
The ataxin-2 （ATXN2） gene is located on human chromo-some 12q24.1. In normal individuals, the coding region in exon 1 of this gene has fewer than 31 CAG repeats （Yu et al., 2005： Laffita-Mesa et al., 2012）. Howev...The ataxin-2 （ATXN2） gene is located on human chromo-some 12q24.1. In normal individuals, the coding region in exon 1 of this gene has fewer than 31 CAG repeats （Yu et al., 2005： Laffita-Mesa et al., 2012）. However, an abnormal expansion of CAG trinucleotide repeats results in the aggre-gation of polyglutamine （polyQ）, which causes spinocer-ebellar ataxia type 2 （SCA2） （Pulst et al., 1996）. The expanded alleles have more than 32 repeats in the affected individuals, and generally there is an inverse correlation between CAG repeat length and age of onset （Pulst et al., 1996）. SCA2 is an autosomal dominant inheritance neurodegenerative disease, whose major clinical feature is progressive cerebellar ataxia. Atrophies of the brainstem and frontal lobe have been frequently detected by magnetic resonance imaging （MRI） （Yamamoto-Watanabe et al., 2010）. This disease has the strong effect on sensory and motor control.展开更多
基金Project supported by the Yunnan Provincial Science and Technology Department (No.2008CC021)the National Natural Science Foundation of China (No.30900798)the CAMS-JSPS China-Japan Medical Exchange Program
文摘A study of the human leukocyte antigen （HLA） genetic characteristics in the Zhuang, the largest ethnic population in China, would provide insight into Zhuang history and give a useful tool for disease associations, transplantation, and anthropology. In the present study, we report the comprehensive HLA-A, HLA-B, HLA-C, and HLA-DRB1 alleles and haplotypes in the Zhuang population of southern China for the first time. A total of 13 HLA-A, 24 HLA-B, 22 HLA-C, and 18 HLA-DRB1 were identified in 104 Zhuang individuals. The frequencies of HLA-A＊11：01, A^＊02：07, A^＊24：02, A^＊02：03, and A^＊33：03 on A loci, B^＊15：02, B^＊58：01, B^＊46：01, and B^＊13：01 on B loci, C^＊03：04, C^＊08：01, C^＊01：02, C^＊03：02, and C^＊07：02 on C loci, and DRBl＊15：01, DRBl^＊16：02, DRB1^＊14：01, DRBl^＊15：02, and DRBI^＊03：01 on the DRB1 loci were 〉10%. The A^＊33：03-C^＊03：02-B^＊58：01-DRBl^＊03：01 and A^＊02：07-C^＊01：02- B^＊46：01-DRB1^＊14：01 haplotypes were predominant in the Zhuang. The phylogenetic tree, as well as the analysis of haplotypes, suggested that the Zhuang are genetically similar to southern Chinese populations, especially the Zhuang-Dong language-speaking populations, such as the Bouyei, Dai, and Maonan. Even though the Zhuang and southern Chinese populations shared common alleles and haplotypes, the Zhuang has maintained its unique genetic characteristics.
基金supported by the National Natural Science Foundation of China(No.30400264)the Natural Science Foundation of Yunnan Province,China(No.2008ZC068M)the Chinese National High Technology Research and Development Program(No.2012AA021802)
文摘The ataxin-2 （ATXN2） gene is located on human chromo-some 12q24.1. In normal individuals, the coding region in exon 1 of this gene has fewer than 31 CAG repeats （Yu et al., 2005： Laffita-Mesa et al., 2012）. However, an abnormal expansion of CAG trinucleotide repeats results in the aggre-gation of polyglutamine （polyQ）, which causes spinocer-ebellar ataxia type 2 （SCA2） （Pulst et al., 1996）. The expanded alleles have more than 32 repeats in the affected individuals, and generally there is an inverse correlation between CAG repeat length and age of onset （Pulst et al., 1996）. SCA2 is an autosomal dominant inheritance neurodegenerative disease, whose major clinical feature is progressive cerebellar ataxia. Atrophies of the brainstem and frontal lobe have been frequently detected by magnetic resonance imaging （MRI） （Yamamoto-Watanabe et al., 2010）. This disease has the strong effect on sensory and motor control.
