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Essentials of Genetics 9th Edition by Michael Palladino William Klug, Michael Cummings, Charlotte Spencer
Edition 9ISBN: 978-1292108865Essentials of Genetics 9th Edition by Michael Palladino William Klug, Michael Cummings, Charlotte Spencer
Edition 9ISBN: 978-1292108865 Exercise 2
An unexpected outcome
A newborn screening program identified a baby with a rare autosomal recessive disorder called arginosuccinate aciduria (AGA), which causes high levels of ammonia to accumulate in the blood. Symptoms usually appear in the first week after birth and can progress to include severe liver damage, developmental delay, and mental retardation. AGA occurs with a frequency of about 1 in 70,000 births. There is no history of this disorder in either the father's or mother's family. The above case raises several questions:
If the disorder is so rare, what is the frequency of heterozygous carriers in the population?
A newborn screening program identified a baby with a rare autosomal recessive disorder called arginosuccinate aciduria (AGA), which causes high levels of ammonia to accumulate in the blood. Symptoms usually appear in the first week after birth and can progress to include severe liver damage, developmental delay, and mental retardation. AGA occurs with a frequency of about 1 in 70,000 births. There is no history of this disorder in either the father's or mother's family. The above case raises several questions:
If the disorder is so rare, what is the frequency of heterozygous carriers in the population?
Explanation
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In rare autosomal recessive disorders li...
Essentials of Genetics 9th Edition by Michael Palladino William Klug, Michael Cummings, Charlotte Spencer
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