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Heterozygous Parents (heterozygous + parent)

Distribution by Scientific Domains

Medical Sciences	40%
Life Sciences	40%

Selected Abstracts

DIFFERENTIAL PERFORMANCE AMONG LDH-B GENOTYPES IN RANA LESSONAE TADPOLES

EVOLUTION, Issue 5 2000
Hansjürg Hotz
Abstract The European pool frog, Rana lessonae, is widely polymorphic for two common alleles (b, e) at the lactate dehydrogenase-B (LDH-B) locus. We compared fitness-related larval life-history traits among LDH-B genotypes, which originated from segregation in heterozygous parents, in an artificial pond experiment where tadpoles of R. lessonae from a Swiss population were raised together with tadpoles of the hemiclonal hybrid R. esculenta at two densities. In R. lessonae, LDH-B e/e homozygotes at each density had a higher proportion of metamorphs among survivors, reached metamorphosis earlier, and were heavier at metamorphosis than b/b homozygotes; b/e heterozygotes had intermediate values. That e/e individuals were superior to b/b in both time to and mass at metamorphosis is surprising because these two life-history traits are thought to reflect a performance trade-off; e/e genotypes apparently compensated for shorter time to metamorphosis by a higher growth rate. The two alleles showed the same performance ranking when combined in hybrids with a R. ridibunda allele: When R. esculenta from Swiss populations reared in the same ponds had received the e allele rather than the b allele from their R. lessonae parent, they reached metamorphosis earlier, but did not differ in mass at metamorphosis. The degree of linkage disequilibrium in the source population of the eight R. lessonae used as parents of the R. lessonae tadpoles is unknown, so we cannot exclude the possibility that the performance differences are caused by some anonymous tightly linked gene, rather than the LDH-B locus, that constitutes the genomically localized target of natural selection. A causal involvement of LDH-B is plausible, nevertheless, because this enzyme takes part in the central energy-metabolizing processes and has been reported to underlie fitness differences in other animals; also, differential performance of LDH-B genotypes has been observed in R. lessonae larvae from another population. The present results suggest strong directional selection for allele e; the sum of available data, including an independent laboratory experiment, suggests that partial environment-dependent overdominance combined with balancing selection favoring e/e homozygotes under some and b/b homozygotes under other conditions may be partially responsible for the broad maintenance of the LDH-B polymorphism in R. lessonae. [source]

Informative-Transmission Disequilibrium Test (i-TDT): combined linkage and association mapping that includes unaffected offspring as well as affected offspring

GENETIC EPIDEMIOLOGY, Issue 2 2007
Chao-Yu Guo
Abstract To date, there is no test valid for the composite null hypothesis of no linkage or no association that utilizes transmission information from heterozygous parents to their unaffected offspring as well as the affected offspring from ascertained nuclear families. Since the unaffected siblings also provide information about linkage and association, we introduce a new strategy called the informative-transmission disequilibrium test (i-TDT), which uses transmission information from heterozygous parents to all of the affected and unaffected offspring in ascertained nuclear families and provides a valid chi-square test for both linkage and association. The i-TDT can be used in various study designs and can accommodate all types of independent nuclear families with at least one affected offspring. We show that the transmission/disequilibrium test (TDT) (Spielman et al. [1993] Am. J. Hum. Genet. 52:506,516) is a special case of the i-TDT, if the study sample contains only case-parent trios. If the sample contains only affected and unaffected offspring without parental genotypes, the i-TDT is equivalent to the sibship disequilibrium test (SDT) (Horvath and Laird [1998] Am. J. Hum. Genet. 63:1886,1897. In addition, the test statistic of i-TDT is simple, explicit and can be implemented easily without intensive computing. Through computer simulations, we demonstrate that power of the i-TDT can be higher in many circumstances compared to a method that uses affected offspring only. Applying the i-TDT to the Framingham Heart Study data, we found that the apolipoprotein E (APOE) gene is significantly linked and associated with cross-sectional measures and longitudinal changes in total cholesterol. Genet. Epidemiol. © 2006 Wiley-Liss, Inc. [source]

Association of estrogen receptor , polymorphisms with susceptibility to chronic hepatitis B virus infection

HEPATOLOGY, Issue 2 2004
Guohong Deng
Several studies have demonstrated that estrogen receptor , (ESR1) participates in the pathogenesis of persistent hepatitis B virus (HBV) infection. To examine whether polymorphisms at the ESR1 gene locus are associated with persistent HBV infection, we resequenced ESR1 genomic region for single nucleotide polymorphisms (SNPs) in 27 unrelated Chinese. Two haplotype-tagged SNPs (htSNP), T29C and A252966G, were selected for genotyping in 1,277 persistent HBV-infected cases, 748 spontaneously recovered controls, and 293 nuclear families using polymerase chain reaction (PCR)-restriction fragment length polymorphism (PCR-RFLP) analysis. We observed that the subjects bearing ESR1 29T/T genotype had an increased susceptibility to persistent HBV infection compared to those bearing at least one 29C allele (odds ratio 1.41; 95% CI, 1.17-1.71, P < .001). Consistent with the results of population-based association study, a significantly greater than expected transmission of the 29T allele (56.4%) from heterozygous parents to offspring with persistent HBV infection was observed (,2 = 4.60, P = .033) using the transmission-disequilibrium test (TDT) in 293 nuclear families. Linkage disequilibrium (LD) mapping analysis indicated that the T29C polymorphism contained within a LD block located from promoter region to intron 3 of ESR1, suggesting that the strong association detected with T29C in ESR1 originated from ESR1 itself. In conclusion, our results suggest that the genetic variation at the ESR1 locus influences susceptibility to persistent HBV infection in a Chinese population. (HEPATOLOGY 2004;40:318,326.) [source]

Application of genomics to grapevine improvement

AUSTRALIAN JOURNAL OF GRAPE AND WINE RESEARCH, Issue 2010
G. DI GASPERO
Abstract Imagine a breeder browsing a grape chromosome nucleotide-by-nucleotide around a trait locus, scrolling down the list of catalogued genes along a genetic interval, resequencing for a few thousand dollars a potential parent or a selected breeding line. In the past couple of years, this vision has become a reality. The availability of the reference genome sequence has provided significant assistance in the saturation of loci with targeted genetic markers. Grape breeders are now offered unprecedented possibilities for selecting plants using deoxyribonucleic acid (DNA) sequences within or near the gene that controls a desirable trait rather than handling their phenotypes. Genomics-assisted selection offers unique advantages in the correct choice of elite genotypes, in order to improve traits for which limitations of phenotyping technologies or low hereditability adversely affect the efficiency of phenotypic selection. DNA technologies enable the application of marker-assisted selection to thousands of grape seedlings every year, which was previously feasible only for cereals and annuals, enhancing the possibilities of finding an ideal recombinant in populations bred from highly heterozygous parents. The expected outcome is a renewal of the varietal choices available to viticulturists, with novel genotypes that meet the demand for disease-free vines and flavourful grapes. The depth of exploration and characterisation of the existing germplasm is crucial for translating natural diversity into new varieties that could perform beyond the fence of the experimental vineyards and gain substantial market share. We review here how current achievements in genomics and genome sequencing are expected to increase the efficiency of grapevine breeding programs. [source]

Molecular analysis of the CART gene in overweight and obese Italian children using family-based association methods

ACTA PAEDIATRICA, Issue 5 2010
L Rigoli
Abstract Aim:, In our study, we evaluated if CART gene A1475G and ,A1457 polymorphisms could be associated with obesity. Patients and methods:, We recruited 133 Italian trios from among 103 (50 males and 53 females) overweight children (mean age 10.5 years, range 6,14 years; mean BMI 26.1 ± 3.2 kg/m2), and 30 (16 males and 14 females) obese children (mean age 9.0 years, range 6,11 years; mean BMI 32.3 ± 2.0 kg/m2). We also selected 187 non-obese unrelated controls. Results:, The allele frequencies of the A1475G single nucleotide polymorphism (SNP) were significantly higher in overweight children (0.07) than in control children (0.02) (p = 0.03) and control adults (0.02) (p = 0.02). Moreover, the allele frequencies were significantly different between obese children (0.08) and control children (0.02) (p = 0.03), and between obese children (0.08) and control adults (0.02) (p = 0.02). The ,A1457 SNP showed no significant association with overweight/obesity. TDT statistic revealed a preferential transmission of the 1475G allele from heterozygous parents to overweight children (p < 0.01) and to obese children (p < 0.05). No statistically significant excess transmission of the ,A1457 allele was found. Conclusion:, Our results supported the hypothesis that inherited variations of the CART gene could influence the development of obesity also in Italian children. [source]