Mendelian Disorders

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Mendelian Disorders

• ???
• zhangxianning_at_zju.edu.cn
• Tel[phone] 88208367
• Office A705, Research Building
• 2012/09

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Genotype The combination of alleles that an
individual possesses. Phenotype
The physical characteristics of a cell or
organism as defined by its genetic constitution.
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Major Patterns of Monogenic Inheritance

• Patterns of autosomal dominant inheritance (AD)
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• Patterns of autosomal recessive inheritance (AR)
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• Patterns of X-linked recessive inheritance (XD)
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• Patterns of X-linked dominant inheritance (XR)
  X-????
• Patterns of Y-linked inheritance Y-??

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Symbols Commonly Used in Pedigree Charts
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Proband(???) III-5 Pedigree drawing
softwareProgeny, etc.
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AD
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AD
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AD
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AD
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AR
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AR
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AR
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AR
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XR
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XR
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XR
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XR
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XD
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XD
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Y-linked
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Special features of mitochondrial genetics
mtDNA is maternally inherited.
Paternal inheritance of mtDNA disease has been
documented in only 1 instance. Schwartz M,
Vissing J. NEJM, 2002347576