Assume a family comes in for genetic testing for the disease related to our gene of interest, as their child shows some symptoms. Both the parents and the child (patient) have their DNA extracted from whole blood, and the full gene sequenced. The figure below represents the sequence analysis of the 3 individuals. Del G Mutant A GCT GGA ACT Normal CTATATGAAGGAGC TG GAAC GTCACACTTCCGC TG TG AGTT (A) Heterozygous c.1207delG in exon 11 (Patient DNA) CTATATGAAGAANCGGAANC (B) Heterozygous c.1510 C>T in exon 13 (Patient DNA) GTCACACTTCC GC TG TG AGTT (C) Heterozygous c.1207delG in exon 11 (Maternal DNA) (D) Heterozygous c.1510 C>T in exon 13 (Paternal DNA) Fig. 1: Sequence analysis of the HEXA gene in the patient DNA revealed a heterozygous c.1207delG mutation in exon 11 (A) which is inherited from the mother (C) and a heterozygous c.1510C>T mutation in exon 13 (B) which is inherited from the father (D).
Assume a family comes in for genetic testing for the disease related to our gene of interest, as their child shows some symptoms. Both the parents and the child (patient) have their DNA extracted from whole blood, and the full gene sequenced. The figure below represents the sequence analysis of the 3 individuals. Del G Mutant A GCT GGA ACT Normal CTATATGAAGGAGC TG GAAC GTCACACTTCCGC TG TG AGTT (A) Heterozygous c.1207delG in exon 11 (Patient DNA) CTATATGAAGAANCGGAANC (B) Heterozygous c.1510 C>T in exon 13 (Patient DNA) GTCACACTTCC GC TG TG AGTT (C) Heterozygous c.1207delG in exon 11 (Maternal DNA) (D) Heterozygous c.1510 C>T in exon 13 (Paternal DNA) Fig. 1: Sequence analysis of the HEXA gene in the patient DNA revealed a heterozygous c.1207delG mutation in exon 11 (A) which is inherited from the mother (C) and a heterozygous c.1510C>T mutation in exon 13 (B) which is inherited from the father (D).
Basic Clinical Laboratory Techniques 6E
6th Edition
ISBN:9781133893943
Author:ESTRIDGE
Publisher:ESTRIDGE
Chapter1: The Clinical Laboratory
Section1.6: General Laboratory Equipment
Problem 1CT
Related questions
Question
Based on the sequence data in the figure above, would you consider the patient to be not
affected, affected or a carrier? What type of mutation occurred in exon 13?
Transcribed Image Text:Assume a family comes in for genetic testing for the disease related to our gene of interest, as
their child shows some symptoms. Both the parents and the child (patient) have their DNA
extracted from whole blood, and the full gene sequenced. The figure below represents the
sequence analysis of the 3 individuals.
Transcribed Image Text:Del G
Mutant
A GCT GGA ACT
Normal CTATATGAAGGAGC TG GAAC
GTCACACTTCCGC TG TG AGTT
(A) Heterozygous c.1207delG in exon 11
(Patient DNA)
CTATATGAAGAANCGGAANC
(B) Heterozygous c.1510 C>T in exon 13
(Patient DNA)
GTCACACTTCC GC TG TG AGTT
(C) Heterozygous c.1207delG in exon 11
(Maternal DNA)
(D) Heterozygous c.1510 C>T in exon 13
(Paternal DNA)
Fig. 1: Sequence analysis of the HEXA gene in the patient DNA revealed a heterozygous c.1207delG mutation
in exon 11 (A) which is inherited from the mother (C) and a heterozygous c.1510C>T mutation in exon
13 (B) which is inherited from the father (D).
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