In genetic counseling, it is difficult to directly test if an individual has a recessive allele that is associated with an inherited disease. However, the individual many be tested for the marker that is located at a known distance from the disease gene. It is often possible to calculate the probability that the individual possesses the disease allele. presence of a particular DNA One recessive mutation in human chromosome 12 can cause a rare disease that leads to death within the first year. This is located approximately 20 cM from the centromere. A RFLP marker is identified to gene Father Mother Sister Sister2 Sister3 Mary RFLPS be as close as 8cM to this lethal The RFLP gene. Skb markers results from the presence or absence of a BamHI restriction presence of the BamHI site results in the production of 5 kb and 3 kb restriction fragment that can be visualized on an site. The enzyme Skb agarose gel. The absence of the Bam HI site results in an 8.0Kb fragment. Sistert Sister2 Sister3 Mary 3kdb Mary came froma family, which unfortunately carry this horrible gene. One of Mary sisters (sister1) passed away in her 6-month age. Mary is now~ about passing this recessive allele to her child. So she collected DNAS from all her families to do the RFLP test. The results are shown as above. Based on this information, please answer the following questions: old and planning a child. She is so concerned 25 year alb

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter11: Genome Alterations: Mutation And Epigenetics

Section: Chapter Questions

Problem 7QP

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#2.) Mary wants to further confirm if she is a carrier for this lethal gene. She was told that a new SNP marker was identified RFPL marker. She requested to do SNP test for all the DNA samples. The results are: her parents are heterozygous for SNPs (that is to say, one chromosome is wild-type and another one contains the SNP). The sister who passed away is homozygous for the SNP. Mary does not have this SNP. So now what is the probability of Mary as a carrier of the death gene?

In genetic counseling, it is difficult to directly test if an individual has a recessive allele that is associated
with an inherited disease. However, the individual many be tested for the
marker that is located at a known distance from the disease gene. It is often possible to calculate the
probability that the individual possesses the disease allele.
presence of a particular DNA
One recessive mutation in human chromosome 12 can cause a rare disease that leads to death within the
first year. This
is located approximately 20 cM
from the centromere. A RFLP marker is identified to
gene
Father Mother Sister Sister2 Sister3 Mary
RFLPS
be as close as 8cM to this lethal
The RFLP
gene.
Skb
markers results from the presence or absence of a
BamHI restriction
presence of the
BamHI site results in the production of 5 kb and 3 kb
restriction fragment that can be visualized on an
site. The
enzyme
Skb
agarose gel. The absence of the Bam HI site results in
an 8.0Kb fragment.
Sistert Sister2 Sister3 Mary
3kdb
Mary came froma family, which unfortunately carry this horrible gene. One of Mary sisters (sister1)
passed away in her 6-month age. Mary is now~
about passing this recessive allele to her child. So she collected DNAS from all her families to do the
RFLP test. The results are shown as above. Based on this information, please answer the following
questions:
old and planning a child. She is so concerned
25
year
alb

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