Eustachian Tube Growth and Development: Anatomy/Function. Protocol Description. This study measures Eustachian tube function and facial growth over time in three groups of children: one with recurrent ear infections, one with chronic middle ear fluid, and one with little past history of otitis media.
Causes of Kartagener syndrome. Kartagener syndrome is caused by a mutation in the DNAI1 gene, which makes a cellular protein required for normal functioning cilia (cilia line the respiratory tract) and sperm motility.
1. Point mutation causing Sickle Cell Anaemia. Sickle cell anaemia is the result of a point mutation in codon 6 of the b-globin gene resulting in the substitution of amino acid glutamic acid by valine (Fig 5.). b-globin. is a major component of adult haemoglobin (HbA).