HSCI 337 Lecture Notes - Lecture 2: Phrenic Nerve, Hypertrichosis, Retina

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Autosomal recessive: albinism: recessive allele in which mutated allele stops person from producing melanin because of bad enzymes. No pigment in skin, hair, and eyes in humans. Hard to drive at night (because we don"t have eye pigment: cystic fibrosis: tissues in body that are supposed to secrete serous fluid (thin, salty) actually secrete mucous fluid (thick, fatty) Hard to clear out mucous from lungs, pancreas (interferes with endocrine and exocrine functions shortened life, usually from opportunistic infections. So debris builds up (usually in neurons which are hypersensitive) Start to see it around age 1 in developmental deficits. Usually die within 10 years : don"t live to reproductive age will not see on pedigree, only passed through carriers. High frequency in ashkenazi jews: pku (phenol ketone urea): affects metabolism by having bad enzyme that doesn"t allow phenylalanine to be converted so it builds up in cells and can become toxic. Used to be called inborn errors of metabolism*

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