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唇腭裂的病因及其在20世纪初英国的意义:高尔顿/皮尔逊与贝特森;多基因劣质原生质与孟德尔主义。

Cleft lip and palate etiology and its meaning in early 20th century England: Galton/Pearson vs. Bateson; polygenically poor protoplasm vs. Mendelism.

作者信息

Melnick M

机构信息

Laboratory for Developmental Genetics, University of Southern California, Los Angeles 90089-0641, USA.

出版信息

J Craniofac Genet Dev Biol. 1997 Apr-Jun;17(2):65-79.

PMID:9224941
Abstract

At the outset of the 20th century in England there arose a venomous dispute between Mendelian geneticists such as Bateson and anti-Mendelian biometricians such as Pearson over the genetic etiology of such "physical deformities" as cleft lip and palate. To Pearson et al., such traits were an expression of physical and racial degeneracy which could be traced to polygenically poor protoplasm. To Bateson et al., such traits were Mendelian unit characters whose segregation could be seen in carefully constructed family pedigrees. Bateson dismissed the work of the anti-Mendelians as "unsound in construction" and predicted such thinking would inevitably lead to "brutal" control of those the larger society deemed unfit. History proved Bateson astutely prescient.

摘要

20世纪初在英国,贝特森等孟德尔遗传学家与皮尔逊等反孟德尔生物统计学家之间,就唇腭裂等“身体畸形”的遗传病因展开了激烈争论。在皮尔逊等人看来,这类性状是身体和种族退化的表现,可追溯到多基因层面劣质的原生质。而在贝特森等人看来,这类性状是孟德尔式的单位性状,其分离情况可在精心构建的家族谱系中观察到。贝特森认为反孟德尔主义者的工作“构建不合理”,并预言这种思维将不可避免地导致对那些被更大的社会视为不适合的人进行“野蛮”控制。历史证明贝特森极具先见之明。

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引用本文的文献

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The evolution of human genetic studies of cleft lip and cleft palate.唇腭裂的人类遗传学研究进展。
Annu Rev Genomics Hum Genet. 2012;13:263-83. doi: 10.1146/annurev-genom-090711-163729. Epub 2012 Jun 6.
2
Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results.非综合征性唇裂伴或不伴腭裂的基因组扫描、精细定位及候选基因分析揭示了连锁和关联结果中特定表型的差异。
Hum Hered. 2009;68(3):151-70. doi: 10.1159/000224636. Epub 2009 Jun 11.
3
Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families.
中国多成员家庭中唇裂伴或不伴腭裂相关基因座的全基因组扫描
Am J Hum Genet. 2002 Aug;71(2):349-64. doi: 10.1086/341944. Epub 2002 Jun 26.