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Title: The molecular variants of the surfactant protein B and transporting protein ABCA3 genes in premature children with bronchopulmonary dysplasia.


Bronchopulmonary dysplasia is a chronic disorder of respiratory function, defined as oxygen dependence of child sustained above 28 days old and need to rescue breathing in 36 revised week of life. The cause of development includes exposure to high concentrations of oxygen during oxygen therapy, ventilation and invalid construction and functions of surfactant proteins. One of the four surfactant proteins is SP-B, a fundamental element to preserve the integrity of the lung and epithelial cells forming surfactant phospholipids layers structures. Probably it also prevents damage to the lungs caused by oxygen and regulates the immune response in the airways. Mutations in protein transporting ABCA3 gene is another genetic factor combined with a shortage of surfactant. Protein ABCA3 is necessary for proper development of the lamellar bodies which are involved in storing and secreting of surfactant components. The purpose of the dissertation was to verify hypotheses about the absence of differences between the prevalence of genetic variants within protein surfactant B and protein transporting ABCA3 genes between sample and control 3 groups. The test group accounted for 82 children with bronchopulmonary dysplasia. The control group consisted of 250 random infants. Both populations were tested for the presence of gene variants of the 10 exons of the SP-B gene sequence. Four changes were detected with a single-nucleotide polymorphism character. One of the changes, situated within the coding sequence of exon 4 (last codon) replaces the Thr Ile in item 131 of the polypeptide chain. The other three amendments were within the uncoding sequences. The possible correlation between SNP`s was also verified. Performed analysis of revising the presence of the mutation E292V in protein transporting ABCA3 gene showed no significant differences. In both groups existed only wild genotype.

Level of degree:

2 - studia doktoranckie

Degree discipline:

pediatria ; pulmonologia ; genetyka

Degree grantor:

Wydział Lekarski


Jacek J. Pietrzyk

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tylko w bibliotece

Location of original object:

Biblioteka Medyczna Uniwersytetu Jagiellońskiego - Collegium Medicum

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Last modified:

Dec 11, 2019

In our library since:

Nov 21, 2012

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Edition name Date
ZB-113851 Dec 11, 2019


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