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随着流行病与传染病的发病率与死亡率日益下降,遗传性疾病在医学上所占的位置就越来越重要。据1978年Mckusick统计,人类单基因遗传病有2,735种,其中常染色体隐性遗传病1,466种,X连锁遗传病196种。据Бочков报道,因先天性异常入院的患孩占入院总数的20%左右。据美国统计,1955～1957年15岁以下儿童中,遗传病占死亡原因的第2位。每年在美国生出非整倍体畸形儿约22,000个。北京市的统计资料,1951年先天性心脏病只占全部婴儿死因的2.6%,而1974～1976年则占全部婴儿死因的30%。南京儿童医院从1964～1976年统计10,052例中,先天性畸形、遗传病也占8.02%。
With the declining incidence and mortality of epidemics and infectious diseases, the medical position of hereditary diseases becomes more and more important. According to Mckusick’s statistics in 1978, there were 2,735 human single-gene genetic diseases, including 1,466 autosomal recessive diseases and 196 X-linked genetic diseases. According to Бочков reports, children admitted to hospital for congenital abnormalities account for about 20% of the total number of admissions. According to U.S. statistics, among the children under 15 years of age from 1955 to 1957, genetic diseases accounted for the second leading cause of death. About 22,000 aneuploidy children are born in the United States each year. According to statistics in Beijing, congenital heart disease accounted for only 2.6% of all infant causes in 1951, while it accounted for 30% of all infant causes in 1974-1976. Nanjing Children’s Hospital from 1964 to 1976, a total of 10,052 cases of congenital malformations, genetic disease also accounted for 8.02%.