THE EFFECT OF MENDELIAN DISEASE ON HUMAN HEALTH - A MEASUREMENT
THE EFFECT OF MENDELIAN DISEASE ON HUMAN HEALTH - A MEASUREMENT
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DOI：
10.1002/ajmg.1320210205
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发表时间：
1985-01-01
期刊：
影响因子：
--
通讯作者：
CHILDS, B
中科院分区：
文献类型：
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作者：
COSTA, T;SCRIVER, CR;CHILDS, B
描述了一种测量孟德尔表型对人类健康(自闭症)影响的尝试。McKusick表被用来描述常染色体显性、隐性和X连锁的表型。条目(351个)(占初始样本的76%)是不适应的，导致损伤、残疾或残疾。(使用的术语符合世卫组织的定义。)对表型效应进行评分，以衡量对寿命、生殖能力和心理社会特征的影响。在不适应孟德尔表型中，25%在出生时明显，到青春期结束时超过90%；常染色体隐性和X连锁疾病的发病年龄呈单峰分布，常染色体显性遗传为三峰分布(有形态发生、婴儿期和成年早期的模式)；58%的表型涉及解剖或功能系统；常染色体显性遗传更有可能只涉及一个系统；57%的人寿命缩短，特别是那些发病于生殖前或生殖内生活的人，更常见的是隐性和X连锁疾病(经遗传死亡校正)；预后因系统受累而异；69%的表型生殖能力受损；大多数表型与婴儿期以后的生活相容，导致心理社会障碍，并限制了上学和工作的机会。这些发现对医疗保健有一定的影响。
An attempt to measure effects of Mendelian phenotypes on human health (homesotasis) in man is described. The McKusick Catalogs were used as the source for descriptions of autosomal dominant, recessive and X-linked phenotypes. Entries (351) (76% of the initial sample) were disadaptive causing an impairment, disability, or handicap. (Terms used are in accordance with WHO definitions.) Phenotypic effects were scored to measure impact on life-span, reproductive capability and psychosocial characteristics. Of the disadaptive Mendelian phenotypes, 25% were apparent at birth and over 90% by the end of puberty; age at onset is unimodal in distribution for autosomal recessive and X-linked diseases and trimodal for autosomal dominant (with modes during morphogenesis, infancy and early adult life); 58% of phenotypes involved > 1 anatomical or functional system; autosomal dominants were more likely to involve only a single system; life-span was reduced in 57%, particularly in those with onset in pre- or intra-reproductive life and more often in recessive and X-linked diseases (data corrected for genetic lethals); prognosis varied with system involvement; reproductive capability was impaired in 69% of phenotypes; and most phenotypes compatible with life beyond infancy caused psychosocial handicap and limited the access to schooling and work. These findings have implications for medical care.