The given table shows a list of the approximate new mutation rates for three autosomal dominant human diseases. Trait Mutations per 10 6 gametes Retinoblastoma (tumor of retina) 20 Achondroplasia (statural dwarfism) 80 Neurofibromatosis (tumor of nervous tissue) 220 Using this table, answer the following - In a series of 50000 consecutive live births recorded in a large metropolitan area, how many new cases of each disease are expected? Identify two possible molecular reasons why the rate of new mutations causing neurofibromatosis is more than ten times greater than the mutation rate causing retinoblastoma. Introduction: Autosomal dominant diseases are caused by the mutations or inheritance in which an affected individual has one copy of mutated gene and one copy of normal gene on a pair of autosomal chromosomes. Rate of mutation in humans can be calculated using the formula- R= M N R represents rate of mutations in the genome M represents number of mutants observed N represents total number of individuals

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Chapter 12, Problem 16P

Summary Introduction

To analyze:

The given table shows a list of the approximate new mutation rates for three autosomal dominant human diseases.

Trait Mutations per 106 gametes

Retinoblastoma (tumor of retina) 20

Achondroplasia (statural dwarfism) 80

Neurofibromatosis (tumor of nervous tissue) 220

Using this table, answer the following -

In a series of 50000 consecutive live births recorded in a large metropolitan area, how many new cases of each disease are expected?

Identify two possible molecular reasons why the rate of new mutations causing neurofibromatosis is more than ten times greater than the mutation rate causing retinoblastoma.

Introduction:

Autosomal dominant diseases are caused by the mutations or inheritance in which an affected individual has one copy of mutated gene and one copy of normal gene on a pair of autosomal chromosomes.

Rate of mutation in humans can be calculated using the formula-

R=MN

R represents rate of mutations in the genome

M represents number of mutants observed

N represents total number of individuals

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