Carrier rates of GJB2 mutated alleles in Croatian Roma population

Kutija, Iva (2016) Carrier rates of GJB2 mutated alleles in Croatian Roma population. Diploma thesis, Faculty of Science > Department of Biology.

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Abstract

Hearing impairment is a highly prevalent sensory disorder resulting from a variety of causes. A high proportion of autosomal recessive non-syndromic hearing impairment is linked to GJB2 gene which encodes for a gap junction protein, connexin-26. Mutations of genes that encodes for connexins can lead to the changes of the cell ion content and cause hearing impairment. In this study are analyzed GJB2 gene mutations (W24X, V153I, R127H, V37I and L90P) of Croatian Roma population. Loci are genotyped using KASP method. Mutated alleles are detected on loci W24X, V153I and R127H. The statistically significant differences in allele frequencies of polymorphic loci among Roma populations in Croatia were noticed. Furthermore, in comparison with European and south Indian populations, the Roma populations show statistically significant difference in allele frequency. The distribution of pathogenic alleles among investigated populations suggests that they were present in the indigenous gene pool of Indian proto-Romani population. This study confirmed that a founder effect and genetic drift have had a large impact on a Roma population's gene pool, which results in the increased frequencies of population-specific allele responsible for the development of genetic diseases.

Item Type: Thesis (Diploma thesis)
Keywords: hearing impairment, connexins, gene pool, founder effect, genetic drift
Supervisor: Peričić Salihović,, Marijana
Date: 2016
Number of Pages: 51
Subjects: NATURAL SCIENCES > Biology
Divisions: Faculty of Science > Department of Biology
Depositing User: Grozdana Sirotic
Date Deposited: 21 Nov 2016 11:37
Last Modified: 21 Nov 2016 11:37
URI: http://digre.pmf.unizg.hr/id/eprint/5317

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