Chapter 16 Chromosome 16 Name of Protein DNA

Chapter 16: Chromosome 16 Name of Protein DNA Sequence Chromosome 16 Name of Gene ABCA 3 64869 ATPbinding cassett e transcription m. RNA Amino acid sequence 290 aa translation What does this protein make up or do? Its transporters are expressed in liver, intestine, blood brain barrier, placenta and kidney Condition/Disease Surfactant dysfunction

Description of Surfactant Dysfunction n Symptoms and characteristics n Surfactant dysfunction cause severe, often fatal breathing problems in newborns or gradual onset of milder breathing problems in children or adults. n Hard time breathing, lung disease and respiration effecting. n The body systems he disease affects are lung, lamellar body membrane and alveoli. n Full gene sequence analysis is performed by PCR-based double-stranded automated sequencing in the sense and antisense directions for each exon, plus at least 20 bases into the 5’ and 3’ ends of all the introns.

n Description of Surfactant Dysfunction (cont. ) Who is affected? Anyone, but the following have a higher risk: n n n Outlook or quality of life n n n New born babies Adults Without treatment, there will be no oxygen throughout the body and can impair brain and organs. With treatment, they will have 90 mg/kg of a calf lung surfactant extract, given intratracheally up to every 6 hours for a maximum of four doses. Treatment affect the disease by showing significant improvement in oxygenation The treatments now will the same available in the future. Researcher: DA

References n http: //ghr. nlm. nih. gov/gene/ABCA 3 n Bullard JE et al. ABCA 3 deficiency: neonatal respiratory failure and interstitial lung disease. Semin Perinatol. 30: 327 -334, 2006. [PMID: 17142158] n Http: //www. ncbi. nlm. nih. gov/pmc/articles/PMC 2987676/ n http: //pediatrics. aappublications. org/content/87/1/101. sh ort