Author/Editor		Writzl, Karin
Title		Pomen genomskih mutacij pri izbranih genetskih multifaktorskih boleznih
Type		monografija
Place		Ljubljana
Publisher		Univerza v Ljubljani, Medicinska fakulteta
Publication year		2006
Volume		str. 57
Language		slo
Abstract		The concept of genomic disorders refers to conditions which result from meiotic or mitotic nonallelic homologous recombination due to regional genomic architecture. These rearrangements lead to the loss or gain of dosage-sensitive gene (or genes). Many mendelian disorders and contiguous gene syndromes have been attributed to genomic rearrangements, but the role of genomic rearrangements in multifactorial disorders is poorly described. Mitotic genomic rearrangements lead to somatic mosaicism and therefore so not follow mendelian inheritance. Because of familial genomic variations and predisposition for mitotic recombination, mitotic genomic rearrangements can occur more often in some families. Therefore we set the hypothesis that genomic rearrangements are associated with multifactorial disorders. Male infertility and cleft palate served as models for research. Microdeletions of the Y chromosome are the most frequent molecular genetic cause of male infertility. Duplications, like deletions, arise from meiotic recombination between homologous repeats. Therefore, our objectives were to determine whether Y chromosome regions, which have already been shown to be prone to deletions, are also prone to duplications and to define the relevance of duplications on male infertility. For discovering candidate genes in etiological relationships with cleft palate we used an interactive biomedical discovery support system. We integrated information on cleft palate associated chromosome regions with regional genomic architecture and the role of the candidate gene in the pathogenesis of cleft palate. Selected candidate genes were tested for deletion/duplication in the group of patients with cleft palate. (Abstract truncated at 2000 characters)
Descriptors		INFERTILITY, MALE CLEFT PALATE CHROMOSOME DELETION MULTIGENE FAMILY PHENOTYPE POLYMERASE CHAIN REACTION OLIGONUCLEOTIDE PROBES