一个患有IA型（酪氨酸酶阴性）眼皮肤白化病的大家庭的分子分析。
Molecular analysis of an extended family with type IA (tyrosinase-negative) oculocutaneous albinism.
作者信息
Oetting W S, Handoko H Y, Mentink M M, Paller A S, White J G, King R A
机构信息
Department of Medicine, University of Minnesota, Minneapolis 55455.
出版信息
J Invest Dermatol. 1991 Jul;97(1):15-9. doi: 10.1111/1523-1747.ep12477808.
We have analyzed the tyrosinase coding region of three individuals having Type IA OCA within an extended family using genomic DNA amplification and dideoxy sequencing. Two of the affected individuals are dizygotic twins. All three have a common missense mutation at codon 81 (Pro----Leu) within exon I. The twins have a second missense mutation at codon 371 (Asn----Thr) within exon III and the third individual has a second missense mutation at codon 47 (Gly----Asp) within exon I. For each of these three individuals, the loss of enzyme function is the result of two different mutations, showing that they are compound heterozygotes of two mutant tyrosinase alleles.
我们利用基因组DNA扩增和双脱氧测序技术，对一个大家庭中三名患有IA型眼皮肤白化病（OCA）的个体的酪氨酸酶编码区进行了分析。其中两名受影响个体为异卵双胞胎。所有三人在外显子I的第81密码子（脯氨酸→亮氨酸）处都有一个共同的错义突变。双胞胎在外显子III的第371密码子（天冬酰胺→苏氨酸）处还有第二个错义突变，而第三名个体在外显子I的第47密码子（甘氨酸→天冬氨酸）处有第二个错义突变。对于这三名个体中的每一个，酶功能的丧失都是两个不同突变的结果，表明他们是两个突变酪氨酸酶等位基因的复合杂合子。
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