A research paper published in the summer of 2012presented a method to obtain the whole-genome sequence of a fetus without any invasive procedure suchas amniocentesis that could on rare occasions causemiscarriage. This new technique is based on the factthat some fetal cells leak into the mother’s bloodstream and then break down, releasing their DNA.Assume that exactly 10% of the DNA fragments inthe mother’s blood serum come from the fetus, whilethe remaining 90% of the DNA fragments in the serum come from the mother’s genome.The investigators collected cell-free DNA from apregnant woman’s bloodstream and subjected it to anadvanced high-throughput sequencing method. Thetable at the end of this problem looks at seven unlinked loci; the number of reads of particular alleles(identified by Greek letters) are shown. You shouldassume for the sake of simplicity that all numericaldifferences are statistically significant (even thoughactual data are never this clean).a. Determine whether each locus is autosomal,X-linked, or Y-linked.b. Describe the diploid genomes of the mother andfetus by using Greek letters for the alleles, or adash (–) if no Greek letter is appropriate.c. Is the fetus male or female?
A research paper published in the summer of 2012
presented a method to obtain the whole-genome sequence of a fetus without any invasive procedure such
as amniocentesis that could on rare occasions cause
miscarriage. This new technique is based on the fact
that some fetal cells leak into the mother’s bloodstream and then break down, releasing their DNA.
Assume that exactly 10% of the DNA fragments in
the mother’s blood serum come from the fetus, while
the remaining 90% of the DNA fragments in the serum come from the mother’s genome.
The investigators collected cell-free DNA from a
pregnant woman’s bloodstream and subjected it to an
advanced high-throughput sequencing method. The
table at the end of this problem looks at seven unlinked loci; the number of reads of particular alleles
(identified by Greek letters) are shown. You should
assume for the sake of simplicity that all numerical
differences are statistically significant (even though
actual data are never this clean).
a. Determine whether each locus is autosomal,
X-linked, or Y-linked.
b. Describe the diploid genomes of the mother and
fetus by using Greek letters for the alleles, or a
dash (–) if no Greek letter is appropriate.
c. Is the fetus male or female?
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