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伏伊伏丁那人群中遗传性皮肤病基因等位基因的频率估计。

Frequency estimation of the gene alleles for genodermatoses in the population of Vojvodina.

作者信息

Stojanović S, Krstić A, Poljacki M, Cvijetić O

机构信息

Klinicki centar, Novi Sad.

出版信息

Med Pregl. 2000 Jan-Feb;53(1-2):15-27.

Abstract

Genodermatoses are hereditary skin disorders or anomalies. The authors had investigated the frequency of genes, species and clinical forms of hereditary dermatoses in Vojvodina including age and sex distribution. The experimental group was selected by random sampling of the diseased of genodermatosis and/or genetic diseases at the Clinic of Dermatology and Venereology and Institute for Children and Adolescents in Novi Sad. The experimental group included 152 cases, and that made simultaneously the experimental and positive control group in relation to the diseased population with genodermatoses and/or genetic diseases in Vojvodina. In the investigation we applied the following methods: family history taking including genealogy; dermatoglyphic examination; screening tests in medical genetics; cytogenetic analysis of patient's karyotype; histopathological analysis of the material obtained by skin biopsy; dermatovenereological, genetic and dysmorphologic examination of skin diseases by analysis of dysmorphologic signs on the skin using a special computer program--POSSUM (Pictures of Standard Syndromes and Undiagnosed Malformations). Application of non-parametric statistics and Log-linear analysis, revealed that there is no statistically significant difference between the experimental group and the group with genetic diseases in population of Vojvodina. The obtained incidence of genodermatoses and/or genetic diseases was computed by "Hardy-Weinberg's principle". These methods of genetic population investigations give possibilities for valid incidence estimation of the diseases and frequency of the gen allele's for genodermatoses and/or genetic disorders and syndromes in defined population. Our results of investigation of the incidence genodermatoses in our's population showed significantly increased values in relation to literature data for the same hereditary disorders.

摘要

遗传性皮肤病是遗传性皮肤疾病或异常。作者调查了伏伊伏丁那遗传性皮肤病的基因、种类和临床类型的频率,包括年龄和性别分布。通过在诺维萨德皮肤病与性病诊所及儿童与青少年研究所对遗传性皮肤病和/或遗传疾病患者进行随机抽样来选择实验组。实验组包括152例病例,相对于伏伊伏丁那患有遗传性皮肤病和/或遗传疾病的人群,该组同时构成实验组和阳性对照组。在调查中我们应用了以下方法:采集家族史包括系谱;皮纹检查;医学遗传学筛查试验;患者核型的细胞遗传学分析;皮肤活检获得材料的组织病理学分析;使用特殊计算机程序——POSSUM(标准综合征和未诊断畸形图片)通过分析皮肤上的畸形体征对皮肤病进行皮肤性病学、遗传学和畸形学检查。应用非参数统计和对数线性分析表明,实验组与伏伊伏丁那遗传疾病人群组之间无统计学显著差异。遗传性皮肤病和/或遗传疾病的发病率通过“哈迪-温伯格原理”计算得出。这些遗传人群调查方法为在特定人群中有效估计遗传性皮肤病和/或遗传疾病及综合征的发病率和基因等位基因频率提供了可能。我们对本人群遗传性皮肤病发病率的调查结果显示,与相同遗传性疾病的文献数据相比,数值显著增加。

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