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Genetics, Genetic terms, Mode of inheritence, Autosomal trisomies, 22q11…
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Genetic terms
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Uniparental disomy: 片親から二つもらって、片親からはもらわない Isodisomy:meiosis2 error, Heterodisomy:miosis1 error, (e.g.Prader-Willi, Angelman)
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Disorder of impriting: メチル化により片方silencedする(e.g. Prader-Willi syndrome---Paternal allel deleted/mutated(15),Angelman syndrome---Maternal allel deleted/mutated(UBE3A,15)
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Mode of inheritence
Autosomal recessive(AR)
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2 carrier parents→1/4affected,1/2carrier
Cystic fibrosis(嚢胞性線維症)
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Cl⁻channel mutation(lungs, GI tract, sweat gland)
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alkalosis, hypokalemia, immunoreactive trypsinogen
recurrent pulmonary infection, chronic bronchitis, bronchiectasis(気管支拡張症),GI tract dysfunction
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X-linked dominant(XD)
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e.g. Hypophosphatemic rickets(低リン酸塩血症性くる病),fragile X syndrome, Alport syndrome
Fragile X syndrome
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intellectual disability, mental deficiency, macroorchidism, big face, autism(自閉症)
Autosomal dominant(AD)
pleiotropic(多面的), variably expressive
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Mitchondrial inheritance
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e.g. mytochondrial myopathy, Leber hereditary optic neuropathy
Rett syndrome
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regression, ataxia, seizure
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22q11 deletion syndrome
cleft palate(口蓋裂), Thymic aplasia, cardiac defect, hypocalcemia
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Williams syndrome
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elfin facies(エルフ顔), intellectual disability, well-developed verbal skill, cardiovascular problems