MGY299Y1 Lecture Notes - Mendelian Inheritance, Dosage Compensation, Xist (Gene)
3 Jun 2013
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Document Summary
Look at a series of families as long as looking at exactly same trait, phenotype caused by the same gene. Ascertainment biases if pediatric hospital, bias that disease is pediatric because patient population is pediatric. Situations when inherited disease will not appear mendelian ex. Parents are carriers of disease if unaffected but carrying trait. X inactivation process so x-linked dominant inheritance may be lethal in males; may be mildly or variably affected than males. Y-linked inheritance male must have affected father unless new mutations. Complications of inheritance patterns pseudodominance, penetrance, etc. age related penetrance (must be past cetain age before showing disease) New mutations occur in germline of parent so mutations not seen in parent, but in offspring. If allele that contributes to the disease is common see trait like some recessive traits like colour blindness recessive inheritance but in pedigree appear like pseudoddominant because alleles are common in population.
