The human RefSeq of the entire first exon of a geneinvolved in Brugada syndrome (a cardiac disordercharacterized by an abnormal electrocardiogram andan increased risk of sudden heart failure) is:5′ CAACGCTTAGGATGTGCGGAGCCT 3′The genomic DNA of four people (1–4), three ofwhom have the disorder, was subjected to singlemolecule sequencing. The following sequences represent all those obtained from each person. Nucleotidesdifferent from the RefSeq are underlined. Individual 1:5′ CAACGCTTAGGATGTGCGGAGCCT 3′and5′ CAACGCTTAGGATGTGCGGAGACT 3′Individual 2:5′ CAACGCTTAGGATGTGAGGAGCCT 3′Individual 3:5′ CAACGCTTAGGATGTGCGGAGCCT 3′and5′ CAACGCTTAGGATGGCGGAGCCT 3′Individual 4:5′ CAACGCTTAGGATGTGCGGAGCCT 3′and5′ CAACGCTTAGGATGTGTGGAGCCT 3′a. The first exon of the RefSeq copy of this gene includes the start codon. Write as much of the aminoacid sequence of the encoded protein as possible,indicating the N-to-C polarity.b. Are any of these individuals homozygotes? If so,which person and what allele?c. Is the inheritance of Brugada syndrome amongthese individuals dominant or recessive?d. Is Brugada syndrome associated with allelic heterogeneity?e. Are any of these individuals compound heterozygotes?f. Do the data show any evidence for locus heterogeneity?g. Which person has normal heart function?h. For each variant from the RefSeq, describe:(i) what the mutation does to the coding sequence;and (ii) whether the variation is a loss-of-functionallele, a gain-of-function allele, or a wild-typeallele.i. For each variant, indicate which of the followingterms apply: null, hypomorphic, hypermorphic,nonsense, frameshift, missense, silent, SNP, DIP,SSR, anonymous.j. Is the function of this gene haploinsufficient?Explain.
The human RefSeq of the entire first exon of a gene
involved in Brugada syndrome (a cardiac disorder
characterized by an abnormal electrocardiogram and
an increased risk of sudden heart failure) is:
5′ CAACGCTTAGGATGTGCGGAGCCT 3′
The genomic DNA of four people (1–4), three of
whom have the disorder, was subjected to singlemolecule sequencing. The following sequences represent all those obtained from each person. Nucleotides
different from the RefSeq are underlined. Individual 1:
5′ CAACGCTTAGGATGTGCGGAGCCT 3′
and
5′ CAACGCTTAGGATGTGCGGAGACT 3′
Individual 2:
5′ CAACGCTTAGGATGTGAGGAGCCT 3′
Individual 3:
5′ CAACGCTTAGGATGTGCGGAGCCT 3′
and
5′ CAACGCTTAGGATGGCGGAGCCT 3′
Individual 4:
5′ CAACGCTTAGGATGTGCGGAGCCT 3′
and
5′ CAACGCTTAGGATGTGTGGAGCCT 3′
a. The first exon of the RefSeq copy of this gene includes the start codon. Write as much of the amino
acid sequence of the encoded protein as possible,
indicating the N-to-C polarity.
b. Are any of these individuals homozygotes? If so,
which person and what allele?
c. Is the inheritance of Brugada syndrome among
these individuals dominant or recessive?
d. Is Brugada syndrome associated with allelic heterogeneity?
e. Are any of these individuals compound heterozygotes?
f. Do the data show any evidence for locus heterogeneity?
g. Which person has normal heart function?
h. For each variant from the RefSeq, describe:
(i) what the mutation does to the coding sequence;
and (ii) whether the variation is a loss-of-function
allele, a gain-of-function allele, or a wild-type
allele.
i. For each variant, indicate which of the following
terms apply: null, hypomorphic, hypermorphic,
nonsense, frameshift, missense, silent, SNP, DIP,
SSR, anonymous.
j. Is the function of this gene haploinsufficient?
Explain.
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