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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。
Objective To detect the pathogenicity gene Transthyretin (TTR) in a Chinese Han nationality with vitreous amyloidosis and identify the mutation site of the causative gene of vitreous amyloidosis in this family. Methods Nine peripheral blood samples from 9 pedigrees (including 2 clinically diagnosed patients and 7 asymptomatic patients) were collected and their genomic DNA was extracted. The four exons of TTR gene were amplified by PCR, and Sanger sequencing was performed on the amplified products. At the same time, 100 healthy unrelated healthy individuals were selected as control. Results Four out of 8 pedigrees in this pedigree detected a heterozygous A> C (Lys35Thr) mutation in codon 35 of TTR exon 2, whereas 100 healthy controls Did not find the same mutation. Conclusion The heterozygous mutation of LTR35Thr in TTR gene is the causative gene of vitreous amyloidosis in this pedigree.