巴西人群中麻风病和结核病易感基因的全基因组扫描。
Genome-wide scans for leprosy and tuberculosis susceptibility genes in Brazilians.
作者信息
Miller E N, Jamieson S E, Joberty C, Fakiola M, Hudson D, Peacock C S, Cordell H J, Shaw M-A, Lins-Lainson Z, Shaw J J, Ramos F, Silveira F, Blackwell J M
机构信息
Cambridge Institute for Medical Research, Wellcome Trust/MRC Building, University of Cambridge School of Clinical Medicine, Addenbrookes Hospital, Hills Road, Cambridge CB2 2XY, UK.
出版信息
Genes Immun. 2004 Jan;5(1):63-7. doi: 10.1038/sj.gene.6364031.
Genome-wide scans were conducted for tuberculosis and leprosy per se in Brazil. At stage 1, 405 markers (10 cM map) were typed in 16 (178 individuals) tuberculosis and 21 (173 individuals) leprosy families. Nonparametric multipoint analysis detected 8 and 9 chromosomal regions respectively with provisional evidence (P<0.05) for linkage. At stage 2, 58 markers from positive regions were typed in a second set of 22 (176 individuals) tuberculosis families, with 22 additional markers typed in all families; 42 positive markers in 50 (192 individuals) new leprosy families, and 30 additional markers in all families. Three regions (10q26.13, 11q12.3, 20p12.1) retained suggestive evidence (peak LOD scores 1.31, 1.85, 1.78; P=0.007, 0.0018, 0.0021) for linkage to tuberculosis, 3 regions (6p21.32, 17q22, 20p13) to leprosy (HLA-DQA, 3.23, P=5.8 x 10(-5); D17S1868, 2.38, P=0.0005; D20S889, 1.51, P=0.004). The peak at D20S889 for leprosy is 3.5 Mb distal to that reported at D20S115 for leprosy in India. (151 words).
在巴西针对结核病和麻风病本身进行了全基因组扫描。在第一阶段，对16个（178名个体）结核病家族和21个（173名个体）麻风病家族进行了405个标记（10厘摩图谱）的基因分型。非参数多点分析分别在8个和9个染色体区域检测到了具有初步连锁证据（P<0.05）的区域。在第二阶段，在另外一组22个（176名个体）结核病家族中对来自阳性区域的58个标记进行了基因分型，在所有家族中又增加了22个标记；在50个（192名个体）新的麻风病家族中对42个阳性标记进行了基因分型，在所有家族中又增加了30个标记。三个区域（10q26.13、11q12.3、20p12.1）保留了与结核病连锁的提示性证据（峰值LOD分数分别为1.31、1.85、1.78；P=0.007、0.0018、0.0021），三个区域（6p21.32、17q22、20p13）与麻风病连锁（HLA - DQA，3.23，P = 5.8×10⁻⁵；D17S1868，2.38，P = 0.0005；D20S889，1.51，P = 0.004）。麻风病在D20S889处的峰值比印度报道的麻风病在D20S115处的峰值远3.5兆碱基对。 （151个单词）
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