We have outlined the significant limitations of using a monogenic disease
in animals to model a disease that is polygenic in humans.
It has been estimated that approximately 7% of world population have different hereditary disorders of hemoglobin, as one of the most common monogenic diseases
Pre-marital counselling and screening is one method of decreasing the likelihood of children being born with monogenic diseases
. Parents undergo screening to see if either or both carry genetic variations that cause disease before having children.
Most diagnostic exomes on the market today have not been optimized, and have sensitivities of between 20% and 50% for monogenic disease
. Continued improvements with sequencers over the coming years (primarily increasing the DNA sequence read length), coupled with rigorous clinical-grade analytics and interpretive strategies, will improve these sensitivities/testing products dramatically.
The second half of the text covers applications in more detail and offers chapters on quantitative analyses of DNA methylation, mitochondrial DNA analysis, real-time immuno-PCR, clinical microbiology and virology, solid organ transplant modeling,real-time-PCR applications in hematology, and prenatal diagnosis of monogenic disease
caused by single nucleotide changes.
Unlike type 1 and type 2 diabetes, which are polygenic and result from alterations in genetic and environmental factors, MODY is a monogenic disease
that results from mutations in a single gene.
Sickle cell disease (SCD), the commonest monogenic disease
in humans, is caused by a point mutation leading to a single amino acid substitution in the beta-subunit of haemoglobin (Hb), the principal oxygen transporter in red blood cells.
Neonatal diabetes is a monogenic disease
occuring in the first 6 months of life with functional or cellular disorders in the pancreatic beta-cells (1-3).
AIP is a rare and devastating monogenic disease
caused by mutations in the PBGD gene.
"hESC lines carrying a monogenic disease
affecting the lung, such as cystic fibrosis, are available.
XLMTM is a rare monogenic disease
characterized by extreme muscle weakness, respiratory failure and early death.