Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

Background: Primary lymphoedema describes a chronic, frequently progressive, failure of lymphatic drainage. This disorder is frequently genetic in origin, and a multigenerational family in which eight individuals developed postnatal lymphoedema of all four limbs was ascertained from the joint Lymphoedema/Genetic clinic at St George's Hospital. Methods: Linkage analysis was used to determine a locus, and exome sequencing was employed to look for causative variants. Results: Linkage analysis revealed cosegregation of a 16.1 Mb haplotype on chromosome 1q42 that contained 173 known or predicted genes. Whole exome sequencing in a single affected individual was undertaken, and the search for the causative variant was focused to within the linkage interval. This approach revealed two novel non-synonymous single nucleotide substitutions within the chromosome 1 locus, in NVL and GJC2. NVL and GJC2 were sequenced in an additional cohort of individuals with a similar phenotype and non-synonymous variants were found in GJC2 in four additional families. Conclusion: This report demonstrates the power of exome sequencing efficiently applied to a traditional positional cloning pipeline in disease gene discovery, and suggests that the phenotype produced by GJC2 mutations is predominantly one of 4 limb lymphoedema

Biometrics and Radiographic Studies on the teratology of Starfish (Pentaceraster affinis) from Thoothukudi Coast of Gulf of Mannar, India

Biometrics and Radiographic Studies on the teratology of Starfish (Pentaceraster affinis) from Thoothukudi Coast of Gulf of Mannar, Indi

पिंजरा मछ्ली पालन पद्धति के इंजनीयरी और तकनीकी पहलू

कृपया पूरा लेखा पढ

Successful seed production of Cobia, Rachycentron canadum, in India

Climate change is affecting farming systems worldwide. It is expected that the impacts will be disproportionately felt by small scale farmers who are already amongst the most poor and vulnerable members of the society. NACA’s efforts to map farmers’ perceptions and attitude towards climate change impacts and adaptive capacities to address these impacts in four Asian countries including the shrimp culture practices in India (CIBA-NACSA/MPEDA-NACA project) through the ‘Aquaclimate’ project is highly admirable. I hope the project will provide farmers with strategies to maintain their resilience in the face of climate change

Gynoecious inbred improves yield and earliness in cucumber (Cucumis sativus)

Heterosis for yield and yield related traits were studied in 28 F1 hybrids of cucumber (Cucumis sativus L.) obtained by 8 × 8 diallel (excluding reciprocal) crosses involving eight parents including one gynoecious line (GBS-1). The F1 hybrids developed using gynoecious line as one parent were found to be superior in performance over top parents for various characters are GBS-1 × Pusa Uday for node number of first female flower (-2.61%), days to first female flower anthesis (-3.45 %), number of fruits/ plant (57.49 %) and yield / plant (66.40%) ,whereas GS-4 × Pusa Uday showed better heterosis for fruit length (20.34%), average fruit diameter (17.04 %) and average fruit weight (12.24%). The best three heterotic hybrids identified over the top parent for yield/plant GBS-1 × Pusa Uday (66.40%), GBS-1 × Punjab Naveen (54.44 %) and GS-4 × Pusa Uday (41.29%) and these may be exploited for commercial cultivation

Development of feed for blue swimmer crab, Portunus pelagicus to reduce the dependency on fresh feeds for sustainable mariculture

Development of feed for blue swimmer crab, Portunus pelagicus to reduce the dependency on fresh feeds for sustainable maricultur

First experience in the larviculture of cobia, Rachycentron canadum (Linnaeus, 1752) in India

Cobia aquaculture has been gaining momentum internationally and has spread to more than 23 countries, half of them in the Asia-Pacific region. Envisaging the prospects of cobia farming in India, broodstock development was initiated and the first successful induced breeding was achieved in March 2010. Larviculture was experimented in Fibre Reinforced Plastic (FRP) tanks as well as Reinforced Cement Concrete (RCC) tanks and protocols were evolved. Green water technique employing the microalga, Nannochloropsis oculata was used. The critical stage for the larvae was from 5 to 9 days post-hatch (dph), when cumulative mortality reached around 90%. Enriched rotifers were fed from 3 to 10 dph and enriched Artemia nauplii from 9 to 18 dph. Weaning with larval inert feed was initiated from 18 dph and grading was carried out once in four days to avoid cannibalism. The study was conducted for 31 days and the final larval survival noted in the FRP and RCC tanks were 2 and 1%, respectively. At the end of the experiment, the specific growth rate of larvae in the FRP system was 30.1% of body weight per day, while the same in RCC tank was 28.3% of body weight per day. The low survival and specific growth rate of larvae in the RCC tanks could be attributed to the low densities of live feed maintained. The present experience indicated that cobia seed production can be successfully practised and by refining the methodology, the survival and growth can be enhanced to achieve commercial level fingerling production

Survival and growth of juvenile silver pompano Trachinotus blochii (Lacepède, 1801) at different salinities in tropical conditions

The objectives of the present study were to evaluate the tolerance of juvenile silver pompano to different salinity conditions in order to determine the minimum salinity required for survival and also to study the effect of different salinities on survival and growth. Wild caught juveniles of the silver pompano Trachinotus blochii (average initial length: 4.38±0.44 cm, average initial weight: 1.6±0.09 g) were used in the experiments. The experiments were conducted in triplicate with 15 fish per tank. Control groups were maintained at 34±1 ppt. Juvenile silver pompano reared at ambient salinity (34±1ppt) were transferred directly to lower salinities (25, 15, 10, 5, 4, 3 and 1 ppt) and monitored for survival. Results indicated that the minimum salinity required for the survival of juvenile T. blochii is 4 ppt and 100% mortality was observed within 7-8 h in 1 ppt salinity. In another experiment, three salinity reduction protocols were followed and the three treatment groups were exposed to 25, 15 and 5 ppt salinity for a period of 56 days and the growth and survival were monitored. Survival and growth in terms of weight was not significantly different in the treatments from the control group except in the case of 5 ppt, which showed comparatively lower survival and specific growth rate (SGR). The results indicate that the culture of juvenile pompano might be feasible in salinities up to 15 ppt in tropical conditions