眼皮肤白化病患者的TYR基因突变类型初步研究

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-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、R299H和W 400L),无义突变2种(R116X和R278X),插入突变2种(929 insC和232 insGGG),剪切位点突变1种(IVS1-3 C>G)。结论:W 400L、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。

Study of TYR gene mutation in OCA patients

Aim:To explore the mutation spectrum of TYR gene and establish the diagnostic method of oculocutaneous 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 8 OCA1 probands and some of their parents.Results: Sequencing result showed 9 kinds of mutations,including 4 missense mutations(R77Q,E294K,R299H and W400L),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'.