Bois E, Feingold J, Frenay P, Briard M L
J Med Genet. 1976 Dec;13(6):434-8. doi: 10.1136/jmg.13.6.434.
A national distribution of 66 French patients, from 49 sibships, has been studied. Segregation analysis, using the maximum likelihood method, was found to agree with the theoretical values expected in recessive autosomal inheritance. The birthplaces of these patients show an unequal geographic distribution of cystinosis, the incidence being higher in Western France. Compared with the total number of live births during the period 1959 to 1972, the minimum incidence of the condition in the province of Brittany is 1 per 25 909, and the gene frequency 0.0062. In the rest of France, the minimum incidence is 1 per 326,440 and the gene frequency 0.0018. Application of Dahlberg's formula gives a similar result. The mean inbreeding coefficient is 530 X 10(-5), a figure 23 times higher than the mean coefficient of France. An indirect test of inbreeding, the distance between parental birthplaces, was studied, first using the French administrative boundaries, second by using kilometers. This distance was constantly smaller for the parents of patients than for the parents of controls. Analysis of two erythrocyte polymorphisms (ABO and Rh) showed a large excess of group A patients when compared with overall French data. These findings are difficult to interpret on genetic grounds. The genetic reasons for the unequal geographic distribution of cystinosis in France are discussed.
对来自49个同胞家族的66名法国患者进行了全国范围的研究。采用最大似然法进行的分离分析结果与常染色体隐性遗传预期的理论值相符。这些患者的出生地显示出胱氨酸病在地理分布上不均衡，法国西部的发病率较高。与1959年至1972年期间的总活产数相比，布列塔尼省该病的最低发病率为每25909人中有1例，基因频率为0.0062。在法国其他地区，最低发病率为每326440人中有1例，基因频率为0.0018。应用达尔伯格公式得出了类似结果。平均近亲繁殖系数为530×10⁻⁵，这一数字比法国的平均系数高23倍。对近亲繁殖的一种间接检测方法，即父母出生地之间的距离，进行了研究，首先使用法国行政区边界，其次使用公里数。患者父母之间的这一距离始终小于对照组父母之间的距离。对两种红细胞多态性（ABO和Rh）的分析表明，与法国总体数据相比，A型患者的比例过高。这些发现很难从遗传学角度进行解释。本文讨论了法国胱氨酸病地理分布不均的遗传原因。
