中文摘要：

目的：对1名生育过眼皮肤白化病（OCA）先证者母亲再次怀孕的家庭进行酪氨酸酶（TYR）基因突变研究和产前基因诊断。方法：应用聚合酶链反应（PCR）技术扩增TYR基因各外显子、外显子内含子交界区及启动子区，分别以异源双链分析法（HA）、变性高效液相层析（DHPLC）和DNA序列测定技术分析先证者及其父母的基因突变，明确突变的致病性后，检测胎儿TYR基因相应位点与基因型。结果：先证者的基因型为C．232_233insGGG／c．841G〉T，其父母基因型分别为c．232_233insGGG和c．841G〉T突变杂合子。E281X具有致病性。胎儿未获得父亲的c．232．_233insGGG突变和母亲的c．841G〉T突变。HA和DHPLC法所获得结果与测序结果完全一致。结论：确定了先证者基因型，并检测出一种新的致病性突变c．841G〉T。胎儿未获得致病性基因突变，具有正常的基因型。

英文摘要：

Aim： Mutation analysis and prenatal diagnosis for the mutation of tyrosinase （TYR） gene ina family with oculocutaneous albinism type Ⅰ （OCA1）. Methods： Polymerase chain reaction （PCR）technique was applied to amplify the regions of exon, exon-intron and promoter of TYR gene, while het-eroduplex analysis（ HA）, denaturing high performance liquid chromatography （DHPLC） technique andDNA sequencing technology were used to analyze gene mutation sites of the proband and her parents. Thepathogenic mutations were identified, and the fetus genotypes were obtained by detecting TYR gene corre-sponding sites of the DNA sequence. Results： The patient of this family was found to be a compound het- erozygote with mutants c. 232_233insGGG and c. 841G 〉 T. The parents of proband showed the same mu-tants c. 232_233insGGG and c. 841G 〉 T. The nonsense mutation E281X was found to be pathogenic. However, the fetus got neither of the two mutations. The results obtained by HA and DHPLC methodswere fully consistent with the DNA sequencing results. Conclusion：The proband＇s genotype was deter-mined, which was found to be a novel pathogenic mutation of TYR gene, c. 841G 〉 T. The fetus did not inherit any pathogenic mutations.