Schnur R E, Sellinger B T, Holmes S A, Wick P A, Tatsumura Y O, Spritz R A
Division of General Pediatrics, Children's Hospital of Philadelphia, Pennsylvania 19104, USA.
J Invest Dermatol. 1996 May;106(5):1137-40. doi: 10.1111/1523-1747.ep12340185.
Type I oculocutaneous albinism is an autosomal recessive disorder in which the biosynthesis of melanin is reduced or absent in skin, hair, and eyes because of deficient activity of tyrosinase (EC 1.14.18.1). Type I oculocutaneous albinism is caused by mutations in the tyrosinase structural gene, TYR; however, no large TYR gene deletions have been identified previously in humans. Here we report a patient with type IB oculocutaneous albinism who is a compound heterozygote for TYR allele containing a mutation that is likely to affect pre-RNA splicing and a paternally inherited allele in which the TYR gene is completely deleted, the first such allele described to date. Aside from the albinism in the proband, his phenotype and that of his normally pigmented father is otherwise normal, suggesting that this TYR deletion does not involve other functionally important contiguous genes.
I型眼皮肤白化病是一种常染色体隐性疾病，由于酪氨酸酶（EC 1.14.18.1）活性不足，皮肤、毛发和眼睛中的黑色素生物合成减少或缺乏。I型眼皮肤白化病由酪氨酸酶结构基因TYR突变引起；然而，此前在人类中尚未发现大的TYR基因缺失。我们在此报告1例IB型眼皮肤白化病患者，该患者是TYR等位基因的复合杂合子，其中一个等位基因含有可能影响前体RNA剪接的突变，另一个父系遗传的等位基因中TYR基因完全缺失，这是迄今为止所描述的首个此类等位基因。除了先证者患有白化病外，他的表型以及他正常肤色父亲的表型在其他方面均正常，这表明该TYR基因缺失不涉及其他功能上重要的相邻基因。
