The Carpathian range represents a weak genetic barrier in South-East Europe

Background: In the present study we have assessed whether the Carpathian Mountains represent a genetic barrier in East Europe. Therefore, we have analyzed the mtDNA of 128 native individuals of Romania: 62 of them from the North of Romania, and 66 from South Romania. Results: We have analyzed their mtDNA variability in the context of other European and Near Eastern populations through multivariate analyses. The results show that regarding the mtDNA haplogroup and haplotype distributions the Romanian groups living outside the Carpathian range (South Romania) displayed some degree of genetic differentiation compared to those living within the Carpahian range (North Romania). Conclusion: The main differentiation between the mtDNA variability of the groups from North and South Romania can be attributed to the demographic movements from East to West (prehistoric or historic) that differently affected in these regions, suggesting that the Carpathian mountain range represents a weak genetic barrier in South-East Europe.

Genetic identification of four Malaysian mackerel species off Coast of Peninsular Malaysia based on molecular marker

Random Amplified Polymorphic DNA (RAPD) markers and cytochrome b (Cyt-b) gene sequences were utilized to fingerprint and construct phylogenetic relationships among four species of mackerel commonly found in the Straits of Malacca namely Rastrelliger kanagurta, R. brachysoma, Decapterus maruadsi and D. russelli. The UPGMA dendogram and genetic distance clearly showed that the individuals clustered into their own genus and species except for the Decapterus. These results were also supported by partial mtDNA cytochrome b gene sequences (279 bp) which found monotypic sequence for all Decapterus studied. Cytochrome b sequence phylogeny generated through Neighbor Joining (NJ) method was congruent with RAPD data. Results showed clear discrimination between both genera with average nucleotide divergence about 25.43%. This marker also demonstrated R. brachysoma and R. kanagurta as distinct species separated with average nucleotide divergence about 2.76%. However, based on BLAST analysis, this study indicated that the fish initially identified as D. maruadsi was actually D. russelli. The results highlighted the importance of genetic analysis for taxonomic validation, in addition to morphological traits.

The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals

Colorectal cancer is one of the most frequent neoplasms and an important cause of mortality in the developed world. Mendelian syndromes account for about 5% of the total burden of CRC, being Lynch syndrome and familial adenomatous polyposis the most common forms. Lynch syndrome tumors develop mainly as a consequence of defective DNA mismatch repair associated with germline mutations in MLH1, MSH2, MSH6 and PMS2. A significant proportion of variants identified by screening these genes correspond to missense or noncoding changes without a clear pathogenic consequence, and they are designated as "variants of uncertain significance'', being the c.1852_1853delinsGC (p.K618A) variant in the MLH1 gene a clear example. The implication of this variant as a low-penetrance risk variant for CRC was assessed in the present study by performing a case-control study within a large cohort from the COGENT consortium-COST Action BM1206 including 18,723 individuals (8,055 colorectal cancer cases and 10,668 controls) and a case-only genotype-phenotype correlation with several clinical and pathological characteristics restricted to the Epicolon cohort. Our results showed no involvement of this variant as a low-penetrance variant for colorectal cancer genetic susceptibility and no association with any clinical and pathological characteristics including family history for this neoplasm or Lynch syndrome.

Genetic differentiation between Atlantic salmon populations in the Windermere catchment

Genetic analysis, using single locus probes for genomic DNA, revealed that the juvenile Atlantic salmon populations in the Rivers Leven, Rothay and Troutbeck were related but genetically distinct. This genetic differentiation is greater than might be expected (by comparison with other salmon populations in the UK) and it is recommended that no action is taken which might promote genetic exchange between the three rivers. Thus, future fisheries management practices should treat the salmon from each site as separate genetic stocks. It is unlikely that any attempts to encourage fish currently spawning in the River Leven (downstream of Windermere) to utilize the upper catchment will be successful. The faster growth rate of juvenile salmon in the River Leven, compared with the River Rothay, probably results from a difference in temperature between the inflowing streams and the main outflow of Windermere. Precocious sexual maturation of some male parr was found in all three populations but the incidence (13-33%) is well within the range reported for other waters. Because of their enhanced growth rate, it is likely that some of the precocious males in the River Leven were 0+ fish. A very high incidence of hybridization (>18%) between Atlantic salmon and brown/sea trout was found in Troutbeck but not in the other rivers. Mitochondrial DNA analysis of these hybrids revealed them to be the product of several, independent cross-fertilizations involving both sexes of both species. The implications of this finding are discussed in relation to the availability of suitable spawning sites in Troutbeck.

Characterisation of patients with brachydactyly type E associated or not with hormonal resistance: clinical, genetic and radiological approach

334 p.