This report demonstrates that homozygosity mapping is a powerful tool for identifying the genetic defect underlying genetically heterogeneous recessive disorders like RP, even in populations with little consanguinity.

Age-related macular degeneration (AMD) is a progressive retinal disorder affecting over 33 million people worldwide. Genome-wide association studies (GWASs) for AMD identified common variants at 19 loci accounting for 15–65% of the heritability and it has been hypothesized that the missing heritability may be attributed to rare variants with large effect sizes. Common variants in the complement component 3 (C3) gene have been associated with AMD and recently a rare C3 variant (Lys155Gln) was identified which exerts a large effect on AMD susceptibility independent of the common variants. To explore whether additional rare variants in the C3 gene are associated with AMD, we sequenced all coding exons in 84 unrelated AMD cases. Subsequently, we genotyped all identified variants in 1474 AMD cases and 2258 controls. Additionally, because of the known genetic overlap between AMD and atypical hemolytic uremic syndrome (aHUS), we genotyped two recurrent aHUS-associated C3 mutations in the entire cohort. Overall, we identified three rare variants (Lys65Gln (P = 0.04), Arg735Trp (OR = 17.4, 95% CI = 2.2–136; P = 0.0003), and Ser1619Arg (OR = 5.2, 95% CI = 1.0–25; P = 0.05) at the C3 locus that are associated with AMD in our EUGENDA cohort. However, the Arg735Trp and Ser1619Arg variants were not found to be associated with AMD in the Rotterdam Study. The Lys65Gln variant was only identified in patients from Nijmegen, the Netherlands, and thus may represent a region-specific AMD risk variant.

Lately, more and more farmers in Romania in order to establish new plantations are turning to the latest creations of cherry varieties and rootstocks of foreign origin. Even if their performances are very good in some areas of origin, and Romania has a wide area with suitability for cherry culture, there are significant differences between expectations and results to growers. For knowledge improvement about the behavior of older and newer varieties of cherry, in the south east area of Romania in terms of precocity, phenology, growth and fructification capacity has been studied a total of six varieties of cherry grafted onto SL64 rootstock. The trees were of Italian origin and the varieties tested were Bigarreau Moreau, Bigarreau Burlat, Van, Adriana, Sweet Heart and Giorgia. The training system of trees is free palmette and the experimental plot is equipped with trellis support system. Trees are planted at a distance of 5 x 4 m. The data obtained so far indicated Sweet Heart and Adriana with the smallest vigor of trees. The first fruits were obtained from the varieties B. Moreau and B. Burlat, and the biggest fruits belonged to Georgia and Sweet Heart varieties. Van variety had the highest production per tree.