The purpose of the human genome project was to offer an accurate and complete sequence of human DNA’s numerous nucleotide base pairs that constitute the human genome (GHR, 2017). The project was aimed at discovering the twenty thousand to twenty-five thousand genes in humans (GHR, 2017). Furthermore, the project was focused at sequencing the genomes of other lab-research animals (such as fruit fly and the mouse) that are of importance to biological research (GHR, 2017).
Besides DNA sequencing, the project on human genome was aimed at developing improved equipment for the collection, analysis, and publication of data (GHR, 2017). Moreover, since the society and individuals are affected by genetic advancement, the genome project was dedicated to the exploration of the effects of genomic research via its Ethical, Legal & Social Implications program; abbreviated ELSI (GHR, 2017).
Downs syndrome occurs as a result of having an extra copy of chromosome 21 (IUPUI, 2003). One in seven hundred children is affected by Down syndrome (IUPUI, 2003). The child’s phenotype can be implicated either severely of mildly (IUPUI, 2003). The characteristics of the disease are short stature, facial features, short lifespan and respiratory problems (IUPUI, 2003).
Klinefelter syndrome results from more than one X chromosomes in males. The abnormality is usually random. An older mom is, however, likely to bear a child with this condition. Features include weaker than normal muscle, sterility, enlargement of breasts and slightly noticeable female body features (IUPUI, 2003). These characteristics are usually observable during adolescence (IUPUI, 2003).
Turner syndrome is a condition that results from the absence of the X chromosome in females (Utiger, 2017). Symptoms and signs may vary depending on the affected (Utiger, 2017). Patients suffering from this are usually of short stature, with a small chin, with webbed neck, of low – set ears and folded skin at eye corners (Utiger, 2017).
- GHR. (2017). What were the goals of the Human Genome Project? National Library of Medicine.
- IUPUI. (2003). Human Chromosomal Disorders.
- Utiger, R. (2017). Turner syndrome.