By Denham M.C., Whittaker J.
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Extra info for A Bayesian approach to disease gene location using allelic association (2003)(en)(11s)
In addition, it is required for movement of cilia and flagella. If this enzyme is not functional, it results in immotile sperm. What is the cause of the husband’s recurrent sinus infections? The cilia of the respiratory epithelium require functional dynein for motility. Without it, they are unable to transport bacteria and particles out of the respiratory tract. The retained particles and bacteria can lead to infections as well as a chronic cough with sputum production. What abnormality might be observed on x-ray of the chest?
The child was delivered at home to a 40-year-old mother who received no prenatal care. The mother reports that since birth the boy has been vomiting greenish material immediately after eating. He has also become lethargic and progressively less responsive. On physical examination the boy is found to have several abnormalities, including prominent epicanthal folds, upslanting palpebral fissures, and macroglossia. He also has thick skin at the nape of his neck. What is the likely diagnosis? The child most likely has Down syndrome, which can be associated with gastrointestinal disorders such as duodenal atresia or stenosis, annular pancreas, tracheoesophageal defects, and anal atresia.
Laboratory studies reveal a serum uric acid level of 55 mg/dL. Urinalysis reveals crystalluria and microscopic hematuria. What is the most likely diagnosis? Lesch-Nyhan syndrome. What is the biochemical defect in this condition? Lesch-Nyhan syndrome is characterized by a deficiency in hypoxanthine-guanine phosphoribosyltransferase (HGPRT). What is the function of the deficient enzyme? HGPRT plays a key role in the purine salvage pathway (Figure 2-10), recycling hypoxanthine and guanine to the purine nucleotide pool.
A Bayesian approach to disease gene location using allelic association (2003)(en)(11s) by Denham M.C., Whittaker J.