毛发角蛋白的基因多态性在先天性念珠状发家系中的研究  

Investigation of hHB polymorphisms genes in a predigree of congenital monilethrix

作　　者：刘安[1] 肖生祥[1] 谭升顺[1] 徐彦春[2] 焦婷[1] 刘艳[1] 潘敏[1] 

机构地区：[1]西安交通大学第二附属医院皮肤科,陕西西安710004 [2]解放军第473医院皮肤科,甘肃兰州730070

出　　处：《中国现代医学杂志》2005年第17期2577-2580,共4页China Journal of Modern Medicine

摘　　要：目的研究先天性念珠状发患者毛发角蛋白基因hHB1和hHB6多态现象。方法提取患者及其家系成员外周血基因组DNA。采用聚合酶链反应扩增hHB1和hHB6基因的全部序列,PCR产物直接测序验证。结果患者及其家庭成员在测序时发现hHB1基因第1外显子的第447位碱基表现为C,第52位的密码子表达为CGA-精氨酸。而与该家系无关的50人份测序中该位为一G>C的杂合峰,即在此位碱基既可是G也可是C,在GeneBank中氨基酸编码为GGA(甘氨酸)。提示为一单核苷酸多态性改变。结论该研究在先天性念珠状发家系中发现了可引起编码氨基酸改变的单核苷酸多态性,证实了国外的报道。[Objective] To investigate the gene polymorphism in a pedigree of Congenital Monilethfix. [Methods] Genomic DNA of affected members, the normal members of the pedigree and 50 unrelated normal members who come from different regions was extracted with a whole blood genomic DNA extraction kit and was used as a template for the polymerase chain reaction （PCR）-mediated amplification of hHB1 and hHB6 genes. [Results] In the pedigree, DNA sequence of patients and normal members was C（447th） in exonl of hHB1 gene, and 52th codon was CCA- arginine. But it was a heteropeak in 50 unrelated normal members which was G as well as C. It was arginine in GeneBank. It showed that this change was a single nucleotide polymorphisms（SNP）. [Conclusion] A single nucleotide pelymorphisms which can result in the change if amino acid sequence is found in a pedigree congenital monilethrix. It confirms foreign report.

关 键 词：先天性念珠状发 角蛋白 多态性 hHB1 hHB6 

分 类 号：R758.71[医药卫生—皮肤病学与性病学]