An abnormal distribution of delta F508 genotypes in cystic fibrosis patient registries.

Annales de genetique Pub Date : 1998-01-01
J Feingold, M Guilloud-Bataille, D De Crozes
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Abstract

Delta F508 mutation of the CFTR gene is the most frequent deleterious allele involved in cystic fibrosis (CF). We have studied the distribution of the three genotypes, delta F508/delta F508, delta F508/x, x/x, in the American, Canadian and French data registries concerning CF; "x" represents the non-delta F508 mutations. In the three registries the observed distribution of the three genotypes differs from the expected one, calculated according to the Hardy and Weinberg equilibrium. Three factors could explain this discrepancy: Wahlund's effect, misinterpretation of the molecular diagnosis, or an ascertainment bias in relation with the severity of the disease. This last factor is the most likely.

囊性纤维化患者登记中delta F508基因型的异常分布
CFTR基因的Delta F508突变是囊性纤维化(CF)中最常见的有害等位基因。我们研究了delta F508/delta F508、delta F508/x、x/x这三种基因型在美国、加拿大和法国CF数据库中的分布;“x”表示非δ型F508突变。在三个登记中,三种基因型的观察分布与根据Hardy和Weinberg平衡计算的预期分布不同。有三个因素可以解释这种差异:Wahlund效应,对分子诊断的误解,或与疾病严重程度相关的确定偏差。最后一个因素是最有可能的。
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