Hum_Mol_Genet_Lecture_2_January_24_2012

Hum_Mol_Genet_Lecture_2_January_24_2012 - Mendelian...

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Mendelian Pedigree patterns Autosomal dominant Autosomal recessive X-Linked recessive X-linked dominant Y-linked
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Autosomal dominant (3.2A) Marfan’s syndrome, Neurofibromatosis, Huntington Disease, Retinoblastoma An affected person usually has at least one affected parent. Affects either sex. Transmitted by either sex. A child of affected x unaffected mating has a 50% chance of being affected.
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Autosomal recessive (3.2B) Cystic fibrosis, Phenylketonuria, Tay-Sachs Affected people are usually born to unaffected parents. Parents of affected people usually asymptomatic carriers. There is an increased incidence of parental consanguinity. Affects either sex. After birth of an affected child each subsequent child has 25% chance of being affected.
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Hemophilia, Lesch-Nyhan Affects mainly males. Affected males are usually born to unaffected parents; the mother is typically an asymptomatic carrier and may have affected male relatives. Females may be affected if father is
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Hum_Mol_Genet_Lecture_2_January_24_2012 - Mendelian...

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