Molecular Genetics Aspects of Hereditary Deafness

The genetic basis of hereditary deafness (HD) has undergone a dramatic transformation in the past 15 years. In the postgenomic era extensive research leading to the discovery of many genes essential for hearing was performed. Hereditary deafness is present in two forms – non-syndromic (70%) and syndromic (30%). Today more than 100 gene loci have been linked to nonsyndromic HD – dominant (DFNA), recessive (DFNB), X-linked forms (DFN) and some in the mtDNA. Over 60 genes are associated with syndromic HD like the most frequent syndromes of Waardenburg, Alport, Usher, and Pendred.Taking in to account the exceptional genetic heterogeneity of HD it is not surprising that the genes found so far encode a large variety of proteins with different functions in the inner ear: connected to the structure and function of cochlear hair cells (7 types of myosin, otoferlin, cadherin, actin, stereocilin, harmonin, K and other ion channels, etc; proteins expressedin non-sensorial cells (connexins – 26, 30 and 31, pendrin, otoancorin, claudin14, etc.); proteins of tectorial membrane (collagen XI, alfa tectorine).The discovery of different type of gene mutations by linkage analysis, gene sequencing and whole exome sequencing with array analysis using OtoChip will enhance undoubtably the diagnostic capabilities, genetic counseling, screening and therapy of patients with HD in the future

BALANCED TRANSLOCATION t(5;13)(q11;q12) IN A WOMAN WITH MALFORMED CHILD

Summary. A balanced translocation t(5; 1

INACTIVATION OF PULMONARY SURFACTANT BY LYSOPHOSPHATIDYLCHOLINE

ABSTRACT The aim of the study is to examine the influence of the lysophosphatidylcholine (lysoPC

New generation genomic platforms in investigation of complex diseases and BEN.

(Full text is available at http://www.manu.edu.mk/prilozi). New generation genomic platforms enable us to decipher the complex genetic basis of complex diseases and Balkan Endemic Nephropathy (BEN) at a high-throughput basis. They give valuable information about predisposing Single Nucleotide Polymorphisms (SNPs), Copy Number Variations (CNVs) or Loss of Heterozygosity (LOH) (using SNP-array) and about disease-causing mutations along the whole sequence of candidate-genes (using Next Generation Sequencing). This information could be used for screening of individuals in risk families and moving the main medicine stream to the prevention. They also might have an impact on more effective treatment. Here we discuss these genomic platforms and report some applications of SNP-array technology in a case with familial nephrotic syndrome. Key words: complex diseases, genome wide association studies, SNP, genomic arrays, next generation sequ-encing