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南非一个乡村社区的眼皮肤白化病:一项群体遗传学研究。

Oculocutaneous albinism in a rural community of South Africa: a population genetic study.

作者信息

Lund P M, Maluleke T G, Gaigher I, Gaigher M J

机构信息

Faculty of Health and Life Sciences, Department of Bimolecular and Sports Sciences, Coventry University, Coventry, UK.

出版信息

Ann Hum Biol. 2007 Jul-Aug;34(4):493-7. doi: 10.1080/03014460701401261.

Abstract

Oculocutaneous albinism type II (OCA2), the most common form of albinism worldwide, is prevalent throughout sub-Saharan Africa. The hypopigmentory phenotype distinguishes affected individuals as 'different' in a black population, resulting in problems of social acceptance and integration. Health issues include constant, lifelong sun-induced skin damage and poor vision. This study determined the frequency and distribution of albinism among the Vhavenda ethnic group living in the relatively low-income north of South Africa in a clan-oriented society. A retrospective study of birth records from regional hospitals gave an incidence of OCA of 1 in 1970, whereas a survey of mainstream schools gave a frequency of only one pupil with albinism in 13,319 as most affected children attended the regional special school. A community-based field study of 35 rural villages gave a prevalence of 1 in 2239 for OCA. One clan, the Vhatavhatsindi, had a significantly higher frequency of 1 in 832. This epidemiological study provides the necessary data for developing health care and welfare system for families affected by albinism in this region.

摘要

II型眼皮肤白化病(OCA2)是全球最常见的白化病类型,在撒哈拉以南非洲地区普遍存在。色素减退的表型使受影响个体在黑人人群中显得“与众不同”,从而导致社会接纳和融入方面的问题。健康问题包括持续终生的阳光诱发的皮肤损伤和视力不佳。本研究确定了生活在南非北部相对低收入、以氏族为导向社会的万万达族中白化病的发病率和分布情况。对地区医院出生记录的回顾性研究得出OCA的发病率为1/1970,而对主流学校的调查显示,在13319名学生中只有一名白化病学生,因为大多数受影响儿童就读于地区特殊学校。一项对35个乡村的社区实地研究得出OCA的患病率为1/2239。有一个氏族,即瓦塔瓦辛迪氏族,其发病率显著更高,为1/832。这项流行病学研究为该地区受白化病影响的家庭制定医疗保健和福利系统提供了必要数据。

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