• Asian Pacific Journal of Cancer Prevention
• /
• 제15권22호
• /
• pp.9859-9863
• /
• 2014

Genetic epidemiological studies have shown that genetic susceptibility to esophageal cancer (EC) is an important cause of its high incidence within families in some areas of China. The purpose of this study was to obtain evidence of a genetic basis of EC in Xin-an and Xin-xiang counties in China. Familial aggregation and complex segregation analyses were performed of 79 EC families in these counties. The heritability of EC was examined using Falconer's method and complex segregation analysis was conducted with the SEGREG program in Statistical Analysis for Genetic Epidemiology (SAGE version 5.3.1). The results showed that the distribution of EC in families did not fit well into a binomial distribution. The heritability of EC among first-degree and second-degree relatives was $67.0{\pm}7.31%$ and $43.1%{\pm}9.80%$, respectively, and the summing up powered heritability was $53.2{\pm}6.74%$. The segregation ratio was 0.045. Complex segregation analysis showed that the genetic model of EC was additive. The current results provide evidence for an inherited propensity to EC in certain high-risk groups in China, and support efforts to identify the genes that confer susceptibility to this disease.

• 미생물학회지
• /
• 제26권2호
• /
• pp.82-87
• /
• 1988

The genetic analysis and characterization of protoplast fusion hybrids between complementary auxotrophic mutants of Candida pseudotropicalis were carried out. Nuclear fusion appeared to occur in fusion hybrids (e.g., F15 and F33), as strongly suggested by isolation of recombinants after mitotic segregation of parental genetic markers. This was confirmed by KNA content, nuclear staining and comparison of survival rate to UV light. After keeping fusion hybrids for approximately one year, the frequency of spontaneous mitotic segregation was $3.0\times 10^{-4}$ - $8.1\times 10^{-4}$ while that of induced mitotic segregation was $1.4\times 10^{-3}$- $1.7\times 10^{-3}$. These results suggested that they maintained stable karyogamy state. It was also found that the production of $\beta$-D-galactosidase from F15, F33 and F158 was somewhat increased when compared with that from either auxotrophic parents or wild type.

• Journal of Genetic Medicine
• /
• 제17권1호
• /
• pp.51-54
• /
• 2020

Since the American College of Medical Genetics and Genomics and Association of Molecular Pathology published their guidelines in 2015, most interpretations of genetic tests have followed them. However, all variants have only limited evidence along 28 interpretation standards, especially de novo variants. When de novo variants, which are classified as variants of uncertain significance (VUS) due to lack of evidence, are detected, segregation in the affected family could provide an important key to clarifying the variants. Autosomal dominant polycystic kidney disease is the most common inherited kidney disorder with pathogenic variants in the PKD1 or PKD2 genes. We detected a novel in-frame deletion variant in the PKD1 gene, c.7575_7577del (p.(Cys2526del)), which was interpreted as a VUS. We analyzed this variant in a Korean family to decide for segregation. Here, we report the variant as a likely pathogenic variant based on the evidence of segregation in three affected relatives and two unaffected members.

• 한국수정란이식학회지
• /
• 제10권1호
• /
• pp.23-31
• /
• 1995

Several kinds of analytic methods for genetic polymorphism in cattle, including bovine blood typing, PCR-RFLP, BoLA and microsatellite typing were described. A few respect to consider for choosing method for actual application of genetic polymorphism were emphasized. The probability of relationship between characteristics and gene concerned, repetibility and easiness of methods applied and the possibility of clarification for segregation pattern should be deliberated.

• 한국작물학회지
• /
• 제52권2호
• /
• pp.123-128
• /
• 2007

Demand for high quality rice has always been a major factor in the international rice marketing. In the present study, doubled haploid (DH) population derived from anther culture of a Tongil/japonica hybrid was used for genetic analysis of rice grain quality. The average values of DH lines for grain weight, grain length and the ratio of grain length to width were near the mid-parent value. More than 40% DH lines showed transgressive segregation for grain weight, length, amylose and lipid content, but less than 10% DH lines observed on ratio of length to width and grain thickness were transgressive segregation. Correlation analysis between appearance qualities and physicochemical characters indicated that grain width and grain thickness both significantly and negatively correlated to protein and lipid content. A highly significant negative correlation between protein content and amylose content was observed.

• Journal of Plant Biology
• /
• 제36권2호
• /
• pp.127-132
• /
• 1993

Self-incompatibility in Brassica campestris is controlled by multi-allele system in a single genetic locus, the S locus, and it is elucidated that S-glycoproteins are S gene products. In this experiments, we examined the genetic mode(pollen tube behavior and segregation of S-glycoprotein), characteristic of S-glycoproteins and DNA constitution within nuclear genome on S gene family that unexplained by single locus model, and investigated the segregation pattern of S-glycoproteins in bred F1 generation. By diallel cross among the 15 plants within one family the existence of three types of homozygotes and three types of heterozygotes were observed, and segregation of S-allele could not explained by single locus model. From the results of IEF-immunoblot analysis for non-segregated individual plant, the segregation pattern of S specific bands was corresponded with results of diallel cross except with one case(SaSa genotype). The molecular weight of 6 different S-genotype varied in near by 50 kD, and each genotype expressed with 2 or 3 bands. Specific bands in SaSa, SbSb, ScSc has almost similar molecular weight between them. Southern analysis of genomic DNA probed with S-glycoprotein cDNA for 6 different genotypes revealed that there are clear difference in polymorphism, multiple bands of hybridization, when restriction enzymes of EcoR I were used. It could be assumed that there are several sequences related to the S-glycoprotein structural genes within their nuclear genome. Therefore, we suggested the possibilities that S-allele system could be controlled by multi-locus, that dominance-recessive interactions could be explained by modifier gene or supressor gene based on the results of abnormal segregation of S-glycoprotein in bred F1. The F2 analyses are progressing in now.

• Asian-Australasian Journal of Animal Sciences
• /
• 제24권3호
• /
• pp.330-335
• /
• 2011

The mode of inheritance of total milk yield and its genetic parameters were investigated in Churra dairy sheep through segregation analyses using a Monte Carlo Markov Chains (MCMC) method. Data which consisted of 7,126 lactations belonging to 5,154 ewes were collected between 1999 and 2002 from 15 Spanish Churra dairy flocks. A postulated major gene was assumed to be additive and priors used for variance components were uniform. Based on 50 000 Gibbs samples from ten replicates chains of 100,000 cycles, the estimated marginal posterior means${\pm}$posterior standard deviations of variance components of milk yield were $23.17{\pm}18.42$, $65.20{\pm}25.05$, $120.40{\pm}42.12$ and $420.83{\pm}40.26$ for major gene variance ($\sigma_G^2$), polygenic variance ($\sigma_u^2$), permanent environmental variance ($\sigma_{pe}^2$) and error variance ($\sigma_e^2$), respectively. The results of this study showed the postulated major locus was not significant, and the 95% highest posterior density regions ($HPDs_{95%}$) of most major gene parameters included 0, and particularly for the major gene variance. The estimated transmission probabilities for the 95% highest posterior density regions ($HPDs_{95%}$) were overlapped. These results indicated that segregation of a major gene was unlikely and that the mode of inheritance of total milk yield in Churra dairy sheep is purely polygenic. Based on 50,000 Gibbs samples from ten replicates chains of 100,000 cycles, the estimated polygenic heritability and repeatability were $h^2=0.20{\pm}0.05$ and r=$0.34{\pm}0.06$, respectively.

• Molecules and Cells
• /
• 제37권10호
• /
• pp.713-718
• /
• 2014

Alteration in chromosome numbers and structures instigate and foster massive genetic instability. As Boveri has seen a hundred years ago (Boveri, 1914; 2008), aneuploidy is hall-mark of many cancers. However, whether aneuploidy is the cause or the result of cancer is still at debate. The molecular mechanism behind aneuploidy includes the chromosome mis-segregation in mitosis by the compromise of spindle assembly checkpoint (SAC). SAC is an elaborate network of proteins, which monitor that all chromosomes are bipolarly attached with the spindles. Therefore, the weakening of the SAC is the major reason for chromosome number instability, while complete compromise of SAC results in detrimental death, exemplified in natural abortion in embryonic stage. Here, I will review on the recent progress on the understanding of chromosome missegregation and cancer, based on the comparison of different mouse models of BubR1, the core component of SAC.

• 한국작물학회지
• /
• 제45권5호
• /
• pp.343-346
• /
• 2000

Rye breeding using F$_1$ hybrid began about 30 years ago, when cytoplasmically inherited forms of male sterility (CMS) and corresponding nuclear restorers were detected. It is very important to produce inbred lines for making hybrid lines because of strong self-incompatibility in rye. Among the 456 rye germplasms used in hybrid breeding scheme, 24 lines (5.3%) had the above 60% of self-fertility, and six lines of them were selected for their good agronomic characteristics and were used for subsequent inbreeding program. The average self-fertility of selected six lines was 78.4%, ranging from 72.2 to 99.5%. Genetic analysis for the self-fertility using $F_2$ populations showed that the segregation of self-fertile and sterile plants in F$_2$populations could be fit into 3 to 1 ratio suggesting self-fertility in rye be controlled by one major gene. The four different self-fertile lines, PI237923, 5C11, 5G5 and Florida black, had the same self-fertility gene because their F$_2$ plants showed almost the same self-fertility as their parents and showed no genetic segregation.

• Mycobiology
• /
• 제49권4호
• /
• pp.406-420
• /
• 2021

Gloeostereum incarnatum has edible and medicinal value and was first cultivated and domesticated in China. We sequenced the G. incarnatum monokaryotic strain GiC-126 on an Illumina HiSeq X Ten system and obtained a 34.52-Mb genome assembly sequence that encoded 16,895 predicted genes. We combined the GiC-126 genome with the published genome of G. incarnatum strain CCMJ2665 to construct a genetic linkage map (GiC-126 genome) that had 10 linkage groups (LGs), and the 15 assembly sequences of CCMJ2665 were integrated into 8 LGs. We identified 1912 simple sequence repeat (SSR) loci and detected 700 genes containing 768 SSRs in the genome; 65 and 100 of them were annotated with gene ontology (GO) terms and KEGG pathways, respectively. Carbohydrate-active enzymes (CAZymes) were identified in 20 fungal genomes and annotated; among them, 144 CAZymes were annotated in the GiC-126 genome. The A mating-type locus (MAT-A) of G. incarnatum was located on scaffold885 at 38.9 cM of LG1 and was flanked by two homeodomain (HD1) genes, mip and beta-fg. Fourteen segregation distortion markers were detected in the genetic linkage map, all of which were skewed toward the parent GiC-126. They formed three segregation distortion regions (SDR1-SDR3), and 22 predictive genes were found in scaffold1920 where three segregation distortion markers were located in SDR1. In this study, we corrected and updated the genomic information of G. incarnatum. Our results will provide a theoretical basis for fine gene mapping, functional gene cloning, and genetic breeding the follow-up of G. incarnatum.