Passmore L A, Kaesmann-Kellner B, Weber B H
Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, Canada.
Hum Genet. 1999 Sep;105(3):200-10. doi: 10.1007/s004390051090.
Albinism is a heterogeneous group of genetic disorders resulting from deficiencies in pigmentation. Clinically, it is divided into ocular (OA) and oculocutaneous albinism (OCA). OCA involves lack of pigment in the skin, hair, and eyes and results from mutations in the tyrosinase gene or in the P gene. OA mainly affects pigmentation in the visual system and may be a mild form of OCA or may be caused by other genetic defects. Clinical diagnosis of albinism type is difficult, because of the observed range of phenotypic variation. Thus, genetic analysis may be helpful with respect to a more accurate diagnosis. Here, we report the mutational profile, determined by genetic analysis of the tyrosinase and P genes, of a large German albino population. We have revealed a total of 42 distinct mutations, 19 of which are novel. Of the 74 unrelated patients screened, 32 (43%) had mutations in the tyrosinase gene, 16 (22%) had P gene mutations, and 26 (35%) patients had no detectable genetic abnormalities. This defines a population of albino patients who are tyrosinase-gene- and P-gene-negative and who thus may represent a good study group for searching for additional genes associated with albinism.
白化病是一组因色素沉着不足导致的遗传性疾病。临床上，它分为眼白化病（OA）和眼皮肤白化病（OCA）。OCA表现为皮肤、毛发和眼睛缺乏色素，由酪氨酸酶基因或P基因的突变引起。OA主要影响视觉系统的色素沉着，可能是OCA的一种轻度形式，也可能由其他基因缺陷导致。由于观察到的表型变异范围，白化病类型的临床诊断较为困难。因此，基因分析可能有助于更准确的诊断。在此，我们报告了对一大群德国白化病患者进行酪氨酸酶和P基因遗传分析所确定的突变谱。我们总共发现了42种不同的突变，其中19种是新发现的。在筛查的74名无亲缘关系的患者中，32名（43%）酪氨酸酶基因发生突变，16名（22%）P基因发生突变，26名（35%）患者未检测到基因异常。这确定了一群酪氨酸酶基因和P基因均为阴性的白化病患者群体，因此他们可能是寻找与白化病相关的其他基因的良好研究对象。
