monogenic disorder การใช้

Geneticists distinguish between monogenic disorders _ in which a single gene rules as an absolute master _ and multifactorial disorders.
Dr . New continues to study three monogenic disorders : apparent mineralocorticoid excess, emphasizing genotype / phenotype correlation and prenatal diagnosis and treatment.
In 5-10 % of patients the family history is positive for ALS . However, it is not always possible to establish the mode of inheritance in each pedigree and not all familial cases may suffer from a genuine Mendelian or monogenic disorder.
Those mutations for which a homozygous form has not been described may be extremely rare, may result in clinical problems not yet recognized as connected to the monogenic disorder, or may be lethal for a fetus and not result in a viable child.
This technique has enabled the development of several meganucleases specific for sequences in the genomes of viruses, plants, etc ., and the industrial-scale production of two meganucleases able to cleave the human XPC gene; mutations in this gene result in " Xeroderma pigmentosum ", a severe monogenic disorder that predisposes the patients to skin cancer and burns whenever their skin is exposed to UV rays.