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传输失衡检验×IBD Mapping×
领域遗传学遗传学
方法族Process / pipelineProcess / pipeline
起源年份19931987
提出者Richard Spielman & Warren EwensEric Lander & David Botstein
类型Hypothesis testGenomic mapping method
开创性文献Spielman, R. S., McGinnis, R. E., & Ewens, W. J. (1993). Transmission test for linkage disequilibrium. American Journal of Human Genetics, 52(3), 506–516. link ↗Lander, E. S., & Botstein, D. (1987). Homozygosity mapping of autosomal recessive disorders in consanguineous families. American Journal of Human Genetics, 36(3), 537–551. link ↗
别名TDT, Family-based association testIBD mapping, Autozygosity mapping, Homozygosity mapping
相关44
摘要The Transmission Disequilibrium Test (TDT) is a family-based statistical method for testing genetic association with disease or traits while inherently controlling for population stratification. Developed by Spielman and Ewens in 1993, the TDT examines whether an allele is preferentially transmitted from heterozygous parents to affected children compared to unaffected children. By comparing transmission patterns within families, the TDT avoids the confounding effects of population structure that plague case-control studies, making it particularly valuable in admixed or stratified populations.Identity-by-descent (IBD) mapping is a genetic mapping technique that identifies disease loci in consanguineous families or isolated populations by detecting homozygous chromosomal segments shared among affected individuals. Developed by Lander and Botstein in 1987, this method exploits the fact that rare disease alleles in related individuals must lie within shared ancestral DNA blocks. By mapping regions where affected individuals are homozygous at multiple markers, researchers can localize disease genes to narrowly defined genomic intervals without prior knowledge of the disease mechanism.
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  3. PUBLISHED

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ScholarGate方法对比: Transmission Disequilibrium Test · IBD Mapping. 于 2026-06-19 检索自 https://scholargate.app/zh/compare