Association of IL10-1082 and IFN-γ+874 Polymorphisms with Cervical Cancer among Tunisian Women

Objective. The aim of this study was to investigate the role of IL10-1082 and IFN-γ+874 polymorphisms in susceptibility to cervical cancer among Tunisian women. Study Design. The IL10-1082 and IFN-γ+874 polymorphisms were analyzed by ARMS-PCR in 160 healthy women and 122 with cervical cancer. The search for associations between those polymorphisms and cervical cancer was based on the χ2 test or Fisher's exact test. Results. The IFN-γ+874 polymorphism showed significant increased frequency of T allele in healthy controls compared with patients (OR = 0.71, 95% CI = 0.50–1.01, and P=0.0459) and individuals with homozygote IFN-γ+874 T/T genotype were at lesser risk of cervical cancer (OR = 0.53, 95% CI = 0.31–0.92, and P=0.015). However, carriers of allele have higher risk for developing cervical cancer (OR = 1.88, 95% CI = 1.09–3.24, and P=0.015). At the polymorphic nucleotide in position 1082 of the IL10 promoter, no differences were found between patients and controls subjects. Conclusion. Our study shows that the T/T genotype polymorphism of IFN-γ+874 T>A is a protective factor for cervical cancer among Tunisian women.

The Relationship between Polymorphisms in the Vitamin D Receptor Gene and Bone Mineral Density in Postmenopausal Women

The objective of this study was to identify, through a systematic review of the literature, Vitamin D receptor gene (VDR) polymorphisms related to osteoporosis and their effects on bone mineral density (BMD). The articles dated between January 2000 and December 2011 in the Scielo and PubMed databases were reviewed. A total of 23 articles that studied the association between the BsmI, ApaI, FokI, and TaqI polymorphisms and bone mineral density in postmenopausal women were selected. We found systematic studies/meta-analysis (level E-I) and case-control/cohort (level E-IV) studies. No definite conclusions can be made regarding the association of BsmI, ApaI, FokI, and TaqI polymorphisms with BMD among postmenopausal women. Larger and more rigorous analytical studies with consideration of gene-gene/environment interactions are needed to further dissect the mechanisms by which VDR alleles influence BMD.

Construction of Genetic Linkage Map and QTL Analysis of Sink-Size Traits in Pearl Millet (Pennisetum glaucum)

A linkage map, primarily based on SSCP-SNP markers, was constructed using 188 F2:3 mapping population progenies produced from a cross between two pearl millet inbred lines having diverse parentage. The skeleton linkage map covered 1019 cM and it comprised of 44 markers distributed across the seven linkage groups. Average adjacent-marker intervals ranged from 14 cM on LG1 to 38 cM on LG6, with an overall mean of 23 cM. Using the F2 linkage map and phenotypic data from the F2 and F2:3 generations of the mapping population, a total of 18 putative QTLs were detected for the three sink-size components. Eight QTLs explained 42.7% of observed phenotypic variation for panicle length using the F2:3 data set. For panicle diameter, 5 QTLs explained 45.8% of observed phenotypic variation. Similarly for grain size, 5 QTLs explained 29.6% of phenotypic variation. Genomic regions associated with panicle length, panicle diameter, and grain size were comapped on LG6 between Xpsms88 and Xpsms2270, indicating the existence of a gene or gene cluster. The QTLs for panicle length on LG2 and LG6 (LOD>3 in both F2 and F2:3 data sets), for panicle diameter on LG2 and LG3 (LOD>14 in the F2:3 data set), and for grain size on LG3 and LG6 (LOD>3 in both F2 and F2:3 data sets) were identified as promising candidates for validation prior to possible application in marker-assisted breeding.

Detection of Fetal Aneuploidies by QF-PCR in Transcervical Cell Samples

Objective. To evaluate the accuracy in the diagnosis of aneuploidies of a quantitative fluorescent polymerase chain reaction (QF-PCR) assay on trophoblastic cells recovered from transcervical cells samples (TCCs) collected by intrauterine lavage (IUL). Study Design. DNA analysis was performed on cells of seemingly trophoblastic origin isolated from IUL samples collected prior to first trimester termination of pregnancy. The analysis was performed by multiplex QF-PCR, using a panel of 29 polymorphic short tandem repeats (STRs) for the chromosomes X, Y, 21, 13, and 18. Results. The QF-PCR analysis on placental samples revealed that among the three cases studied there were two cases of trisomy 21 and one case of monosomy X; the comparison of peak profiles obtained from IUL, placental, and maternal samples confirmed the diagnosis of aneuploidy in all three cases. Conclusion. This study suggests that the detection of chromosomal aneuploidies in micromanipulated TCC samples can be achieved by QF-PCR amplification of selected highly polymorphic and chromosome specific markers. With respect to standard karyotype, QF-PCR analysis has the limitation that only numerical abnormalities of selected chromosomes can be detected but retains the advantages of being quicker, less expensive, and less lab demanding.

Mutation Screening of Elongation Factor 2 in Shwachman-Diamond Syndrome Patients Lacking Mutations in the SBDS Gene

Shwachman-Diamond syndrome is an autosomal recessive disorder characterized by bone marrow failure, pancreatic insufficiency, and skeletal abnormalities. Mutations in SBDS gene explain, by literature, 90% of SDS cases. The Italian experience shows that only the 5% of individuals diagnosed as affected by SDS on clinical and hematological grounds lack mutations in the SBDS gene. It is well established that SBDS protein is essential for the assembly of mature ribosomes. The yeast SBDS ortholog functions within a pathway containing elongation factor-like 1, homologous to human GTPase elongation factor-2, to promote the release and recycling of the nucleolar shuttling factor Tif6 from cytoplasmic pre-60S subunits in a cascade targeted to form the active ribosome. We considered that mutations of genes that disrupt pathways shared by SBDS may result in disease with comparable clinical features. EEF2 was evaluated as a candidate gene by mutation screening in clinically defined SDS which lack mutations in the SBDS gene. To date, no deleterious mutations were found in EEF2 in four Italian patients without SBDS mutations, but with a clinical diagnosis of SDS.

Identification of a Novel Ryanodine Receptor Mutation Causing Malignant Hyperthermia

Malignant hyperthermia (MH) is a potentially fatal autosomal dominant disorder of the skeletal muscle and is triggered in susceptible individuals by commonly used inhalation anaesthetics and depolarizing muscle relaxants. Around 80% of the affected family are linked to the ryanodine receptor (RYR1) gene. More than 300 mutations in RYR1 have been associated with the MH-susceptible phenotype. Here we report the identification by two independent methods of a novel mutation associated with the MH-susceptible phenotype in the RYR1 gene.

Analysis of CYP2D6 Allele Frequencies and Identification of Novel SNPs and Sequence Variations in Sardinians

The CYP2D6 enzyme is involved in the metabolism of many commonly prescribed drugs. The presence of polymorphisms in the CYP2D6 gene may modulate the enzyme level and activity affecting individual responses, to pharmacological treatment in drug level, response and adverse reactions. Aims. This study aimed to analyze the determination of allele frequencies in Sardinians and the comparison to frequencies found in the Caucasian Population. Methods and Materials. We used a Long PCR strategy coupled to direct genomic DNA sequencing analysis. An amplification allele-specific was carried out to infer the correct allelic phase. The TaqMan Gene Copy Number Assay (Applied Biosystems) was used to verify the presence of gene deletions/multiplications. Results and Conclusions. Our results indicated that CYP2D6 allele frequencies in Sardinians differed from those previously detected in the Caucasian Population. Moreover, three new SNPs and four novel haplotypes were identified.

Genetic Divergence in Indigenous Wild and Cultivated Rice Species of Manipur Valley

Genetic divergence of 32 indigenous rice germplasms and five wild rice of which three from Manipur and two wild rice procured from IRRI, Philippines was investigated using Mahalanobis, D2 statistic. Based on twelve agromorphological characters, the thirty-seven germplasms both wild and cultivated were grouped into five clusters based on the relative magnitudes of D2 values following Tocher's method of cluster formation. Based on the rank totals, the characters which contributed maximum towards genetic divergence in the present studies were grain yield/plant, spikelet/panicle, 100 grain weight, grain length, days to 50% flowering, ear bearing tillers/plant, and flag leaf length. In the present study, maximum intercluster distance was estimated between cluster III and (D2=14.09) which was closed followed by clusters II and V (D2=12.50). On the basis of their greater intercluster distance, high value of cluster mean according to the character to be improved and performance of the individual germplasms for the character, the germplasms could be used in hybridization programme for improvement of different plant characters in the rice germplasms of Manipur.

Perspectives for the Use of Quantitative Genetics in Breeding of Autogamous Plants

With the increased demand for food, the use of methods and alternatives that increase efficiency in selection of inbred lines is necessary. The use of quantitative genetics plays an important role in this respect, especially when the pedigree method is used in autogamous plants. This study proposes the inclusion of relationship information among progenies using the best linear unbiased predictor (BLUP) to obtain the breeding values of greater accuracy and, consequently, increase genetic gains from the selection. A strategy is proposed that aims to accelerate the program of obtaining perennial plant inbreds and use the greatest amount of information possible in selection so as to attain maximum accuracy. In that way, it would be possible to make inbreds available which are better than the existing ones, with greater frequency, meeting the agribusiness demand involved in production of perennial plants.

Molecular and Chromosomal Markers for Evolutionary Considerations in Torpediniformes (Chondrichthyes, Batoidea)

Due to their basal position in the vertebrate phylogenetic tree, the study on elasmobranch genetics and cytogenetics can provide remarkable information on the mechanisms underlying the evolution of all vertebrates. In recent years, different molecular approaches have been used to study the relationships between the different taxonomic groups of cartilaginous fish, among them are the physical mapping of specific nucleotide sequences on chromosomes. However, these are controversial, particularly in Torpediniformes in which the species have different karyological parameters. The purpose of this paper is to gather the molecular markers so far present in literature that were used to reconstruct the phylogenetic position of Torpediniformes with respect to the other Batoidea and to discriminate between the various chromosome pairs in the endemic species in the Mediterranean Sea, Torpedo torpedo, T. marmorata and T. nobiliana. The 5S and 18S ribosomal DNA, the HpaI and Alu SINE, the telomeric (TTAGGG)n and the spermatogenesis-related SPATA 16, SPATA 18, and UTY sequences were particularly useful. These last genomic segments were also able to differentiate between the male and the female karyotypes. Moreover, the torpedoes showed a particular genomic organization, especially Torpedo torpedo, in which large quantities of highly repeated DNA and a characteristic distribution of heterochromatin, which is never centromeric, were observed.