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巴布亚湾海岸的一种高频白化病变体。

A high-frequency albinism variant on the gulf coast of Papua.

作者信息

Hall A J, Sesebe T, Lopes Cardozo R, Nurse G T

出版信息

P N G Med J. 1981 Mar;24(1):35-9.

PMID:6945771
Abstract

An apparently recessively inherited albinism variant characterized by skin tanning, light but not white hair, uniformly pigmented irides varying in colour from hazel to dark brown, slight nystagmus, divergent strabismus, mild hyperkeratosis and only slight or absent photophobia, occurs among the Elema-speaking peoples of the Gulf Province of Papua New Guinea at frequencies indicating that the gene which produces it is polymorphic. It is readily distinguishable from both classical types of albinism, from the "redskin" variant also found in Papua New Guinea, and from the "yellow mutant" albinism of North America. The differences from the African types of "albinoidism" or "partial albinism" are less marked, and it may represent a similar mutation with simply a different distribution of the melanosomes in the two peoples, Allelism, or lack of it, with classical tyrosinase-positive albinism has not been determined.

摘要

在巴布亚新几内亚海湾省说埃莱马语的人群中,出现了一种明显呈隐性遗传的白化病变体,其特征为皮肤晒黑、头发浅色但非白色、虹膜色素均匀,颜色从淡褐色到深褐色不等,有轻微眼球震颤、外斜视、轻度角化过度,且只有轻微畏光或无畏光现象。其出现频率表明产生这种变体的基因具有多态性。它很容易与两种典型的白化病类型区分开来,也与同样在巴布亚新几内亚发现的“红皮肤”变体以及北美的“黄色突变型”白化病区分开来。与非洲类型的“类白化病”或“部分白化病”的差异不太明显,它可能代表一种类似的突变,只是在这两个人群中黑素小体的分布不同。尚未确定它与典型的酪氨酸酶阳性白化病是否为等位基因关系。

相似文献

1
A high-frequency albinism variant on the gulf coast of Papua.巴布亚湾海岸的一种高频白化病变体。
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2
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7
Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4.携带underwhite(uw)突变的小鼠原代黑素细胞中酪氨酸酶的加工和细胞内运输受到破坏。这是4型眼皮肤白化病(OCA)的一种模型。
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