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前房深度与原发性闭角型青光眼。II. 一项遗传学研究。

Anterior chamber depth and primary angle-closure glaucoma. II. A genetic study.

作者信息

Alsbirk P H

出版信息

Acta Ophthalmol (Copenh). 1975 Jun;53(3):436-49. doi: 10.1111/j.1755-3768.1975.tb01175.x.

DOI:10.1111/j.1755-3768.1975.tb01175.x
PMID:1174403
Abstract

The genetics of primary angle-closure glaucome (a.c.g.) was studied: a) through the prevalence in sibs and children of a.c.g. probands, and b) through the family distribution of the closely correlated axial anterior chamber depth (ACD). The material emerged from an epidemiologic study in Greeland Eskimos. a) Compared with the general population, the observed prevalence of a.c.g. was increased in sibs of a.c.g. probands and the estimated, future prevalence was found to be the same in sibs and children. Age influence prevented a proper Mendelian analysis, but no simple monogenic inheritance seems probable. b) The biometric study showed a relatively shallow chamber in sibs, children, nephews, nieces and grandchildren of a.c.g. probands. Regression analyses revealed a corresponding pattern, also in control families of probands with shallow chambers and in general population families. A heritability of 70% was found, indicating that about two thirds of the age and sex independent variation in ACD seems to be genetic.

摘要

对原发性闭角型青光眼(a.c.g.)的遗传学进行了研究:a)通过a.c.g.先证者的同胞和子女中的患病率,以及b)通过密切相关的前房深度(ACD)的家族分布情况。该研究材料来自对格陵兰爱斯基摩人的一项流行病学研究。a)与普通人群相比,a.c.g.先证者的同胞中观察到的a.c.g.患病率有所增加,并且在同胞和子女中发现估计的未来患病率相同。年龄因素影响了恰当的孟德尔分析,但似乎不太可能是简单的单基因遗传。b)生物统计学研究表明,a.c.g.先证者的同胞、子女、侄子、侄女和孙子女的前房相对较浅。回归分析也显示了类似的模式,在浅前房先证者的对照家庭以及普通人群家庭中也是如此。发现遗传度为70%,这表明ACD中约三分之二的与年龄和性别无关的变异似乎是由遗传因素导致的。

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