Pedigree Diagram and Report Coursework

Pedigree Diagram and Report
Coursework

Table of Contents
TASK 1............................................................................................................................................3
TASK 2............................................................................................................................................4
REFERENCES................................................................................................................................5

TASK 1
Bloom syndrome refers to a rare autosomal recessive genetic disorder that is
characterized by a predisposition to cancer development, short stature along genomic instability.
This can be caused due to mutation in the BLM gene which is a member of the RecQ DNA
helicase family. In this report, there is a discussion about population frequency, major causative
genetic change and molecular abnormality. It also includes inheritance patterns along with an
explanation of the mechanistic basis of this disorder. This also includes treatment symptoms, the
prognosis of this disorder.
Bloom syndrome is the name of the condition which have been chosen to write about. There
are about 283 cases where an individual has been reported as suffering from Bloom syndrome
which is a rare disorder. It was first recognized in 1954 and includes 122 individual which has
also been diagnosed with cancer frequency. Bloom syndrome is about 1 in 100 and the relative
carrier rate is about 1 in 37 (Heddar and et. al., 2020).
Due to autosomal recessive disorder. It has been observed that there is no feature of the
syndrome in parents of the individual with Bloom syndrome. This is associated with Bloom
syndrome are missense mutation which is catalytically inactive in nature. Cells of bloom's
syndrome patient exhibit striking genomic instability which shows the characteristic of hyper
recombination along with hypermutation. Human BLM cells are very sensitive to DNA
damaging agents like methyl Methanesulphonate and ultraviolet which indicates deficient repair
capability.
Bloom syndrome refers to a rare human genetic disorder that is characterized by mutation
within the BLM gene and has a primary effect that a recessive chromosome breakage and
increase is rates of interchange in somatic cells (Kiwerska and et. al., 2019).
Bloom syndrome is inherited in the autosomal recessive pattern that describes that there
is a mutation of both copies of the BLM gene in humans with Bloom syndrome where every
parent carries one mutant copy along with one normal copy.
Mutation of the Bloom syndrome gene BLM is the result of genomic instability. This
refers to the first step which is towards positional cloning of the gene and having tight linkage of
FES and BLM at 15q26.1 that can be detected by genotyping affected in families mutated BLM
gene are inherited identical which was by the decent in Bloom syndrome person who has their
cousins or parents are Ashkenazi Jewish. This Bloom disorder can be characterized by