Medical Genetics and Genomics

Running head: MEDICAL GENETICS AND GENOMICS
MEDICAL GENETICS AND GENOMICS
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MEDICAL GENETICS AND GENOMICS1
1) The diseases that is chosen to be work with is Neurofibromatosis type 1.
a) Neurofibromatosis type 1 is a situation that is categorised by changes in colouring of the skin
pigmentation as well as tumour growth in nerves present in the brain, skin, and other parts of the
body (Azadeh et al. 2020). The signs and symptoms of this disease differ from person to person.’
The URL that is highly relevant towards the condition in Ensembl database is
https://asia.ensembl.org/Homo_sapiens/Variation/Phenotype?
oa=Orphanet:636;ph=58874;r=17:31373659-
31374659;v=rs201044568;vdb=variation;vf=108342004
b) NF1 (Neurofibromatosis type 1) is the common neurofibromatosis that occurs among 1 in
3,000 to 4,000 persons in the United Kingdom (Anastasaki et al. 2019).
c) The locus of the major causative genetic change is 17:31374159 (+).
d) The nature of genetic mutation in NF1, leads to positional cloning that isolates the genes,
which causes the disease. It extends over 350kb of genomic DNA inside a chromosomal region
17q11.2 by encoding mRNA of size 11-13kb that contains 59 exons. NF1 occurs in humans as
well as in rat tissues (Ravegnini et al. 2019). NF1 transcript can be identified easily, with four
alternatives spliced transcripts identified. Three of the transcript isoforms form differential
expressions to extent of various tissues during the fourth isoform that remain for further
examination. The documentation of somatic mutations in NF1 from tumour tissues powerfully
supports the assumption that NF1 to be a member of the tumour suppressor gene family
(Giordano et al. 2019). However, the mutations in the gene proved to be difficult, along with
germline mutation analysis, which have shown 82% towards fully characterised NF1 mutations

MEDICAL GENETICS AND GENOMICS2
that are considered to be severe for truncation of neurofibromin. Unlike other autosomal
dominant situations, one altered copy of a gene present inside each cell is adequate to cause the
disorder.
e) Every cells have 2 copies of each gene, one is inherited from the mother another is inherited
from the father. NF1 trails an autosomal dominant inheritance pattern, where mutation occurs
only in one copy of the gene. If the mutated gene is inherited then the gene turns out to be
dominant gene causing NF1. A parent suffering NF1 might pass a copy of mutated gene or
normal gene. Therefore, a child with genetic mutation have chances of getting affects with the
disorder is 50%. Hence, parent, sister or brother with this disorder have 50% chances of getting
affected. However if the parents are detected with negative result for mutation then the chances
of siblings getting affected decreases.
f) The mutations in the gene is difficult, having a proper germ line mutation analysis. The
mechanistic pattern of NF1, alters one copy of gene that is present within the cell and is adequate
in causing the disorder. NF1 have 2 copies of gene causing tumour. A sudden mutation in a gene
copy would lead to passing of the disease one generation to other. People suffering from NF1,
develop second mutation in second cells having features of NF. People born with
one NF1 mutation develops a second mutation in different cells as well as develops the tumours
characteristic of neurofibromatosis type 1.
g) Symptoms- light and flat brown spots over skin, tiny bumps in the eye iris, deformities in
bone, freckling in bumps and disability in learning.
Treatment- chemotherapy as well as radiation therapy are used to treat tumours linked with NF1.