Question

describe the cellular events that are affected in one genetic disorder that is the result of either point or chromosomal mutation

Answer 1

Down syndrome (DS or DNS), otherwise called trisomy 21, is a hereditary issue caused by the nearness of all or part of a third duplicate of chromosome 21. It is regularly connected with physical development delays, trademark facial highlights, and gentle to direct scholarly handicap. The normal IQ of a youthful grown-up with Down disorder is 50, proportionate to the psychological capacity of a 8-or 9-year-old tyke, however this can fluctuate broadly.

The additional hereditary material present in DS brings about overexpression of a bit of the 310 gene situated on chromosome 21. This overexpression has been assessed at around 50%. Some exploration has proposed the Down disorder basic region is situated at groups 21q22.1– q22.3, with this zone including genes for amyloid, superoxide dismutase, and likely the ETS2 proto oncogene. Other research, be that as it may, has not affirmed these discoveries. microRNAs are likewise proposed to be included.

The dementia which happens in Down disorder is because of an abundance of amyloid beta peptide delivered in the cerebrum and is like Alzheimer's infection. This peptide is prepared from amyloid precursor protein, the genes for which is situated on chromosome 21. Decrepit plaques and neurofibrillary tangles are available in about all by 35 years old, however dementia may not be available. Those with DS additionally do not have an ordinary number of lymphocytes and deliver less antibodies which adds to their expanded danger of contamination.