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).

Human Anatomy & Physiology (11th Edition)

11th Edition

ISBN:9780134580999

Author:Elaine N. Marieb, Katja N. Hoehn

Publisher:Elaine N. Marieb, Katja N. Hoehn

Chapter1: The Human Body: An Orientation

Section: Chapter Questions

Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...

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