中文摘要：

目的对一汉族玻璃体淀粉样变性家系的致病基因Transthyretin（TTR）进行检测,明确该家系玻璃体淀粉样变性的致病基因突变位点。方法采集该家系9个成员（包括临床确诊患者2例,无症状者7例）外周血,提取其基因组DNA。用PCR技术对TTR基因的4个外显子进行扩增,并对扩增产物进行Sanger测序;同时选取100例无血缘关系的健康人作为对照。结果该家系8例受检者中有4例受检者检测到TTR第2号外显子中第35位的密码子发生了A〉C（Lys35Thr）的杂合突变,而100例健康人对照组中均未发现相同突变。结论 TTR基因Lys35Thr杂合突变是导致该家系玻璃体淀粉样变性的致病基因。

英文摘要：

Objective Our purpose was to investigate the pathogenic gene mutation of a Han Chinese family with vitreous amyloidosis. Methods The 9 individuals （proband, 1 affected member and 7 unaffected members） of the family were selected and their DNA was extracted from peripheral blood. The 4 exons of transthyretin （TTR） gene were amplified by polymerase chain reaction （PCR） tech- nique. The amplified products of TTR gene were sequencing by Sanger technique. We also selected 100 unrelated healthy individual as the control group. Results By DNA sequencing, a heterozygous mutation was found in 4 of the 9 subjects from the family. The transi- tion of adenine to cytosine（AAG 〉 ACG） was detectable in exon 2 of TTR, which changed the amino acid composition at codon 35 （Lys35Thr）. This mutation did not presented in control group. Conclusion The heterozygosis mutation of TTR gene Lys35Thr should be a pathogenic mutation for the family with vitreous amyloidosis.