中文摘要：

目的：对临床诊断为眼皮肤白化病（OCA）患者的TYR基因进行突变筛查，以了解我国大陆OCA患者TYR基因突变类型。方法：应用PCR技术扩增患者及其父母的TYR基因外显子、外显子一内含子交界区及启动子区，以DNA序列测定技术进行突变筛查与鉴定。结果：在8名患者的16个TYR等位基因内，查明9种突变；其中错义突变4种（R77Q、E294K、PR99H和W400L），无义突变2种（R116X和R278X），插入突变2种（929insc和232insGGG），剪切位点突变1种（IVS1-3C〉G）。结论：W400L、R299H分别占本研究所检出全部OCA1突变等位基因的31．3％（5／16）和18．8％（3／16），可能为中国大陆人群中较常见的TYR基因突变类型。

英文摘要：

Aim：To explore the mutation spectrum of TYR gene and establish the diagnostic method of oculoeutaneous albinism type 1 in China. Methods： In order to define the patients＇ genotypes, the PCR and sequencing techniques were applied to amplify and analyze the regions of exon, exonintron and promoter of TYR gene of 80CA1 probands and some of their parents. Results： Sequencing result showed 9 kinds of mutations, including 4 missense mutations （ R77Q, E294K, R299H and W40OL）, 2 nonsense mutations （R116X and R278X）, 2 insertion mutation （929insC and 232insGGG） and 1 splice site mutation （IVS1-3C 〉 G）. Conclusion： It seemed that W400L and R299H is the frequent mutations, which accounted for about 31.3% and 18.8% in Chinese mainland OCA1 alleles. The results show that the Chinese population TYR gene mutation spectrum is different from other countries＇.