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目的通过调查湖南省人群白化病群体发病频率、致病基因和致病基因携带者频率,为白化病的研究和预防提供素材。方法在湖南省随机选取12个县,再随机选取14个乡镇人群,以自然村作为群体调查单位,根据白化病特征逐一拉网式调查。运用Hardy-Weinberg定律数学公式(p2+2pq+q2=1)计算得到湖南省白化病致病基因和致病基因携带者频率。结果总共调查319274人,其中白化病患者共21人,湖南省白化病群体发病频率为0.0066%,白化病致病基因频率(p)为0.0081,致病基因携带者频率(2pq)为0.0161。结论湖南省白化病发病频率与袁萍统计全国400万人的群体调查资料的平均发病率0.0057%比较高0.0009%。
Objective To investigate the frequency of albinos in Hunan Province, the frequency of pathogenic genes and carriers of pathogenic genes, and provide material for the research and prevention of albinism. Methods Twelve counties were selected at random in Hunan Province, and randomly selected 14 townships and townships. Natural villages were used as group investigation units, and were investigated according to the characteristics of albinism. Using the Hardy-Weinberg law mathematical formula (p2 +2 pq + q2 = 1) calculated the frequency of pathogenic genes and pathogenicity carriers of albinism in Hunan Province. Results A total of 319274 people were surveyed, of which 21 were albinism patients. The frequency of albinos in Hunan Province was 0.0066%. The frequency of pathogenicity allele of albinism (p) was 0.0081 and the frequency of pathogenic gene carriers (2pq) was 0.0161. Conclusions The incidence of albinism in Hunan Province and the average population survey data of 4 million people nationwide by Yuan Ping were 0.009% and 0.0009%, respectively.