Over a period of several years, a large hospital kepttrack of the number of births of babies displaying thetrait achondroplasia. Achondroplasia is a very rareautosomal dominant condition resulting in dwarfismwith abnormal body proportions. After 120,000births, it was noted that 27 babies had been born withachondroplasia. One physician was interested in determining how many of these dwarf babies resultedfrom new mutations and whether the apparent mutation rate in this geographical area was higher thannormal. He looked up the families of the 27 dwarfbirths and discovered that four of the dwarf babieshad a dwarf parent. What is the apparent mutationrate of the achondroplasia gene in this population? Isit unusually high or low?

Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
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Over a period of several years, a large hospital kept
track of the number of births of babies displaying the
trait achondroplasia. Achondroplasia is a very rare
autosomal dominant condition resulting in dwarfism
with abnormal body proportions. After 120,000
births, it was noted that 27 babies had been born with
achondroplasia. One physician was interested in determining how many of these dwarf babies resulted
from new mutations and whether the apparent mutation rate in this geographical area was higher than
normal. He looked up the families of the 27 dwarf
births and discovered that four of the dwarf babies
had a dwarf parent. What is the apparent mutation
rate of the achondroplasia gene in this population? Is
it unusually high or low?

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