Matsunaga J, Dakeishi-Hara M, Tanita M, Nindl M, Nagata Y, Nakamura E, Miyamura Y, Kikuchi K, Furue M, Tomita Y
Department of Dermatology, Akita University School of Medicine, Akita, Japan.
Dermatology. 1999;199(2):124-9. doi: 10.1159/000018218.
Yellow oculocutaneous albinism (OCA) that is caused by tyrosinase gene mutations shows two characteristics: extreme hypopigmentation at birth and the eventual development of yellow or blond hair.
We studied a Japanese girl who had brown hair, a lighter skin color than her unaffected family and brown eyes at 9 months of age.
We performed direct sequencing analyses of the tyrosinase gene in her genomic DNA.
The patient was a compound heterozygote for the +DeltaC310 mutation (known to result in absent melanogenic activity) and a second t-->a transition at the 3' end of intron 2.
The t-->a transition has previously been reported as a splicing mutation in other Caucasian patients with a typical yellow OCA phenotype. However, this patient showed much more pigmentation than that reported in Caucasians. Therefore, we estimate that the mild phenotype results from her genetic pigment background.
由酪氨酸酶基因突变引起的黄色眼皮肤白化病（OCA）具有两个特征：出生时极度色素减退以及最终出现黄色或金色头发。
我们研究了一名9个月大的日本女孩，她有棕色头发，肤色比未患病的家人浅，眼睛为棕色。
我们对她基因组DNA中的酪氨酸酶基因进行了直接测序分析。
该患者是 +DeltaC310 突变（已知会导致黑色素生成活性缺失）和内含子2 3' 端第二个t→a转换的复合杂合子。
先前已报道t→a转换在其他具有典型黄色OCA表型的白种人患者中是一种剪接突变。然而，该患者的色素沉着比白种人报道的要多得多。因此，我们估计这种轻度表型是由她的遗传色素背景导致的。
