Search results for "Heterozygosity"

Development and characterization of microsatellite markers in the Colorado potato beetle, Leptinotarsa decemlineata

2006

The characterization of 11 Leptinotarsa decemlineata microsatellite loci isolated using the fast isolation by AFLP of sequences containing repeats (FIASCO) protocol is reported. Three to 15 alleles per locus were detected in 54 beetles collected from four populations of L. decemlineata. The mean number of alleles was 7.4 ± 3.2 and the level of expected heterozygosity ranged from 0.451 to 0.798. The total exclusionary probabilities using these loci for the first and the second parent were 0.982 and 0.999, respectively. These are the first microsatellite loci characterized from the Colorado potato beetles that can be used for estimating genetic diversity, population structure and parentage an…

On female choice, heterozygosity and the lek paradox

2008

WWOX, a Chromosomal Fragile Site Gene and its Role in Cancer

2006

Allelic imbalances affecting the long arm of chromosome 16 have been extensively reported in the literature as common abnormalities observed in various carcinoma types, As a result of loss of heterozygosity (LOH) studies in breast cancer, we delimited a genomic area within chromosome 16 that demonstrated the highest frequency of abnormalities. This led us to the identification and cloning of WWOX, a candidate tumor suppressor gene (TSG) that spans a fragile region of DNA located at 16q23.3-24.1 (FRA16D: the second most active common chromosomal fragile site in the human genome). This gene encodes a protein that contains two WW domains responsible of protein-protein interactions and a short-…

Development and characterization of 11 microsatellite markers in the rock sparrow, Petronia petronia

2006

Eleven polymorphic microsatellite loci were isolated in the passeriform Petronia petronia using the enrichment protocol FIASCO (fast isolation by AFLP of sequences containing repeats). We detected three to 13 alleles per locus in 25 specimens collected from an Italian population. The level of expected heterozygosity ranged from 0.439 to 0.856. One locus is sex linked to the Z chromosome. The total exclusionary probabilities using these loci for the first and the second parent were 0.978 and 0.999, respectively. These are the first microsatellite loci characterized from the rock sparrow that can be used for estimating population structure and for large-scale parentage analysis.

Allozymic variation in Mediterranean hake, Merluccius merluccius (Gadidae)

1998

Abstract Four hundred and twenty individual hake from 10 sample sites in the Mediterranean Sea were analysed in order to study genetic variability and identify genetic stock structure. Twenty loci were identified, four of which were polymorphic at the 95% level: ADH*, PGI‐1*, PGI‐2* and SOD‐1*. Average observed and expected heterozygosity were 0.084 and 0.090, respectively. PG1–1* deviated from Hardy‐Weinberg expectations due to an excess of heterozygotes and F‐statistic analysis showed also a significant excess of heterozygosity at SOD‐1*. FST was not significant for each locus except for PGI‐2*, where a single sample from the Channel of Sicily (C5) showed a different pattern in allelic fr…

Isolation and use of microsatellite loci in Melicertus kerathurus (Crustacea, Penaeidae).

2010

Melicertus kerathurus represents an economically important resource for fisheries and aquaculture. Seven microsatellite loci from 373 specimens of M. kerathurus collected in different parts of the Mediterranean and NE Atlantic were identified. Four of these microsatellites showed a moderate level of polymorphism, with 2 to 14 alleles per locus, whereas three had a monomorphic profile. Observed and expected heterozygosity ranged between 0.28 to0.64 and 0.28 to 0.65, respectively. Three microsatellite loci deviated from Hardy-Weinberg equilibrium in some populations, with a deficit of heterozygosity. Mean Fst values showed significant differentiation among sample sites analysed and indicate t…

Isolation and characterization of 10 highly polymorphic di- and trinucleotide microsatellite markers in the mayfly Ameletus inopinatus (Ephemeroptera…

2008

We describe the isolation of ten polymorphic microsatellite loci from the mayfly Ameletus inopinatus. Loci had di- or trinucleotide repeat motifs and were highly variable with three to 17 alleles (mean = 7.15). Observed heterozygosity ranged from 0.143 to 0.905. One locus (Ami_202) showed significant deviation from Hardy–Weinberg equilibrium in one population, but no evidence for null alleles. One locus (Ami_73) was significantly linked with three other loci. The remaining nine loci should prove highly informative for population genetic studies.

Isolation and characterization of 11 polymorphic trinucleotide microsatellite markers in the stonefly Arcynopteryx compacta (Plecoptera: Perlodidae).

2011

We describe the isolation of 11 polymorphic trinucleotide microsatellite loci from the stonefly Arcynopteryx compacta. Loci were highly variable with 3 to 14 alleles (mean = 6.45). Observed heterozygosity ranged from 0 to 0.867. Seven loci showed significant deviation from Hardy–Weinberg equilibrium across both populations. There was no evidence for null alleles, and thus, Hardy–Weinberg departures could have resulted from genetic structure between populations or subpopulations. No linkage between loci was found. The 11 loci should prove highly informative for population genetic studies.

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

2013

Yunis-Varón syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe neurological involvement. Enlarged vacuoles are found in neurons, muscle, and cartilage. By whole-exome sequencing, we identified frameshift and missense mutations of FIG4 in affected individuals from three unrelated families. FIG4 encodes a phosphoinositide phosphatase required for regulation of PI(3,5)P(2) levels, and thus endosomal trafficking and autophagy. In a functional assay, both missense substitutions failed to correct the vacuolar phenotype of Fig4-null mouse fibroblasts. Homozygous Fig4-null mice exhibit features of YVS, including neurodegeneration and enlarg…

Evaluation of morphological and genetic diversity of loquat accessions grown in sicily

2015

In this study 20 accessions of loquat (Eriobotrya japonica Lindl.) that originated from Sicily and other countries were characterized phenotypically and genotyped using seven microsatellite markers. The microsatellites clearly distinguished 14 accessions; three pairs of local accessions were not differentiated, and three accessions from abroad can be considered bud sport mutations of the main Spanish cultivar ‘Algerie’. The mean alleles per locus was four, ranging from two with the marker EJ075 and five with EJ012 and EJ271; the mean Polymorphic Information Content was 0.53; the average expected and observed heterozygosities resulted 0.62 and 0.59, respectively. These values revealed a …