Mendelian Diseases and Conditions in Croatian Island Populations: Historic Records and New Insights

Saftić, Vanja; Rudan, Diana; Zgaga, Lina
August 2006
Croatian Medical Journal;2006, Vol. 47 Issue 4, p543
Academic Journal
Among Croatian islands, there are several which are known for unusual autochthonous diseases and specific medical conditions that result from the reproductive isolation and specific population genetic structure. These populations are characterized by high degree of genetic isolation, consanguinity, and inbreeding. The reported diseases include Mal de Meleda on Mljet island, hereditary dwarfism on Krk island, familial learning disability on Susak island, familial ovarian cancer on Lastovo island, and several other rare diseases and conditions inherited in Mendelian fashion. We present a historical perspective on how these conditions were first described, interpreted, and assessed. We reviewed the information obtained through genetic research in the past several years, when the genetic etiology of some of these conditions was explained. The disease gene causing Mal de Meleda was first localized at 8q chromosome, and mutations in the ARS (component B) gene encoding SLURP-1 (secreted mammalian Ly-6/uPAR-related protein 1) protein were identified subsequently. The genetic etiology of dwarfism on the island of Krk is explained by a mutation in the PROP1 gene, responsible for the short stature. The search for mutations underlying other monogenic diseases in Croatian islands is under way.


Related Articles

  • Primary ovarian adenosarcoma with elevated Ca-125 levels and normal ascitic fluid cytology: a case report and review of literature. Shakuntala, P. N.; Umadevi, K.; Usha, A.; Abhilasha, N.; Bafna, U. D. // Ecancermedicalscience;2012, Vol. 6 Issue 271-285, p1 

    Objective: Ovarian adenosarcoma is a very rare tumour for which treatment options vary. We will consider the option of optimal cytoreductive surgery followed by adjuvant chemotherapy consisting of ifosamide (mesna) and adriamycin to prevent systemic metastasis, and will observe the role of...

  • Minimizing Inbreeding by Managing Genetic Contributions Across Generations. Sánchez, Leopoldo; Bijma, Piter; Woolliams, John A. // Genetics;Aug2003, Vol. 164 Issue 4, p1589 

    Presents the strategy that achieves the lowest possible rate of inbreeding for a population with unequal numbers of sires and dams with random mating. Approach to reducing inbreeding in small populations with sexes of unequal census number; Imposition of a breeding structure where parental...

  • Fixed Contributions Designs vs. Minimization of Global Coancestry to Control Inbreeding in Small Populations. Fernández, J.; Toro, M.A.; Caballero, A. // Genetics;Oct2003, Vol. 165 Issue 2, p885 

    Populations with small census sizes are at risk because of the loss of genetic variability and the increase of inbreeding and its harmful consequences. For situations with different numbers of males and females, several hierarchical designs have been proposed to control inbreeding through the...

  • A general procedure for predicting rates of inbreeding in populations undergoing mass selection. Bijma, Piter; Van Arendonk, Johan A.M. // Genetics;Apr2000, Vol. 154 Issue 4, p1865 

    Presents a general procedure rates of inbreeding in populations undergoing mass selection. Use of the method in assessing overlapping generations; Significance of determining the reproductive age of phenotypes; Relationship between heritability and rates of inbreeding.

  • Advanced intercross lines, an experimental population for fine genetic mapping. Darvasi, A.; Soller, M. // Genetics;Nov95, Vol. 141 Issue 3, p1199 

    Proposes a novel type of experimental population, specifically intended to exploit the power of inbred lines and saturated genetic maps, to provide fine mapping of quantitative trait loci (QTL) of moderate effect in experimental populations of reasonable size. Probability of recombination;...

  • Some effects of selection when there is partial full-sib mating. Pollak, Edward // Genetics;Jan95, Vol. 139 Issue 1, p439 

    Studies the effects of selection when there is partial full-sibling mating. Viability between zygote formation and adulthood; Correlated frequencies of the alleles; Expression for the probability that a mutant survives.

  • An Inbreeding Model of Associative Overdominance During a Population Bottleneck. Bierne, Nicolas; Tsitrone, Anne // Genetics;Aug2000, Vol. 155 Issue 4, p1981 

    Presents an inbreeding model of associative overdominance during a population bottleneck. Summary of linkage and identity disequilibrium within a single framework; Integration of the effects of physical linkage and variation in inbreeding history among individual pedigrees; Evaluation on the...

  • Population genetic structure in a Robertsonian race of house mice: evidence from microsatellite polymorphism. DALLAS * †,; BONHOMME †,; BOURSOT †,; BRITTON-DAVIDIAN ‡; BAUCHAU§ // Heredity;Jan1998, Vol. 80 Issue 1, p70 

    Genetic evidence was assessed for inbreeding and population subdivision in a Robertsonian fusion (Rb) race of the western European form of house mouse, Mus musculus domesticus, in central Belgium. Inbreeding, and the factors responsible for subdivision (genetic drift and...

  • Synchronous papillary carcinoma thyroid with malignant struma ovarii: A management dilemma. Krishnamurthy, Arvind; Ramshankar, Vijayalakshmi; Vaidyalingam, Venkatesh; Majhi, Urmila // Indian Journal of Nuclear Medicine;Oct2013, Vol. 28 Issue 4, p243 

    Struma ovarii (SO) is a rare form of ovarian tumor, which is defined by the presence of thyroid tissue comprising more than 50% of the overall tumor volume. The vast majority of the variants of SO are benign; however, malignant tumors have been reported in a small percentage of cases. An...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics