摘要
为摸清山东省一般人群的遗传负荷,我们对济南、淄博、济宁、烟台、临沂、潍坊、惠民、聊城、德州9地(市)的普通人群进行了大规模的遗传病调查。采用分层整群随机抽样方法,共调查样本人群1388120人,发现遗传病164种,患者12961人,其中单基因病108种,患者3689人,染色体病9种,患者307人,多基因病13种,患者1369人,有遗传异质性的疾病12种,患者7339人,遗传方式不明的疾病22种,患者257人。164种遗传病的总患病率为9.34‰。患病率高的前10种疾病依次是:非特异性智力低下、精神分裂症、原发癫痫、先天性聋、牛皮癣、支气管哮喘、先天性心脏病、腹股沟斜疝、唇腭裂和先天愚型。
The survey for major hereditary diseases was carried out in a
population of 1388120 distributed in nine perfectures of Shandong Province.
A tatal of 12961 cases with 164 kinds of hereditary diseases were ascertained.
The total prevalence is 9.34 per 1000 individuals,which contained single-
gene disorders(2.66‰),chromosomal anomalies(0.22‰),multifactorial
diseases(0.99‰),the diseases with genetic heterogeneity(5.29‰),and
other hereditary disorders(0.19‰)in which the precise mechanism could
not be identified.Among the 164 kinds of hereditary diseases identified in
this survey,ten kinds of highest-prevalence,in decreasing order,are non-
specific mental retardation,schizophrenia,essential epilepsy,congenital
deafness,psoriasis,bronchial asthma,congenital heart diseases,inguinal
hernia,cleft lip with or without cleft palate,and Down syndrome.
出处
《山东医科大学学报》
1993年第4期271-274,共4页
Acta Academiae Medicinae Shandong
基金
山东省科委资助
关键词
遗传病
调查
山东
Hereditary diseases
Survey
Shandong