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Updated: Jun 19, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

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Published on: August 24, 2013

遺伝子型分析により",王室病"の原因が特定されます

Evgeny I Rogaev1, Anastasia P Grigorenko, Gulnaz Faskhutdinova

  • 1University of Massachusetts Medical School, 303 Belmont Street, Worcester, MA 01604, USA. Evgeny.Rogaev@umassmed.edu

Science (New York, N.Y.)
|October 10, 2009
PubMed
まとめ

血友病の一種である王室病は,F9遺伝子の変異によって引き起こされた. 歴史的なサンプルをゲノム解析することで,この遺伝的原因が特定され,重度の血友病B型であることが明らかになった.

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Pedigree Analysis

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Pedigree Analysis01:35

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Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Epistasis Analysis01:09

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
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Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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