• Journal of Genetic Medicine
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• v.17 no.2
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• pp.102-107
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• 2020

We report the case of an infant with a 4q35.1 deletion with 10p duplication. This mutation is rarely reported in the literature and has been found to have variable clinical findings, often including developmental delay. In this case, the condition was detected by chromosomal microarray analysis after initial manifestation of a feeding problem and developmental delay. Minor dysmorphic features with abnormal neurological examination led to further evaluation. The father's chromosome complement was 46, XY, t(4;10)(q35;p12.2). Parental balanced translocation can go unrecognized, because affected individuals are often phenotypically healthy until they have fertility issues such as recurrent miscarriages or children with severe congenital disorders. Genetic diagnoses help to establish a clear family genetic background that permits the development of clear treatment strategies. Prenatal counseling can also help to understand the possible risks associated with pregnancy or future child planning.

• Journal of Interdisciplinary Genomics
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• v.4 no.2
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• pp.24-30
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• 2022

Klinefelter's syndrome (KS) is a syndrome with extra X chromosome(s), in XY individuals, characterized by gynecomastia, small testes, and infertility. Additional X chromosomes can be present as variable karyotypic forms, including mosaicism (47,XXY/46,XY). The reported prevalence of KS ranges from one in 500 to one in 1,000 live males, but is probably underestimated. The classic phenotype is small, firm testes and infertility resulting from seminiferous tubule dysgenesis and androgen deficiency. The spectrum of KS includes tall stature with relatively long legs and arm span, decreased body hair, learning disabilities, behavioral problems, poor motor skills, and other important medical issues, such as metabolic syndrome, diabetes, autoimmune diseases, cardiovascular disease, certain neoplasia. The increased risk of certain medical problems in KS can be attributed to a direct effect of the extra X chromosome, the combined action of multiple genomic and epigenetic factors, or the hormonal imbalances. Typically, chromosome analysis is not ordered for adult patients with general medical conditions, except for suspected cases of hematologic and lymphoid disorders. Even though it was found during work-up for certain disorders in adult patient, most physicians do not suspect KS or consider its impact. Therefore, understanding the pathophysiology and variable manifestation in KS is necessary, and discussions with multidisciplinary teams will help to diagnose and treat males with KS.

• Journal of Life Science
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• v.10 no.1
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• pp.32-36
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• 2000

Solitary long terminal repeats(LTRs) of human endogenous retrovirus K family(HERV-K) have been found to be coexpressed with sequences of closely located genes. It has been suggested that HERV-K LTR-like elements entered the primate genome approximately 33-40 million years ago. WE investigated the presence of HERV-K LTR elements in New World monkeys using PCR amplification. Six LTR elements of HERV-K family were identified from New World monkeys, represented by the squirrel and night monkeys. They showed a high degree of sequence homology(96-99%) with the human-specific HERV-K LTR elements. Phylogenetic analysis reveals that an LTR element (SM-1) from the squirrel monkey and another LTR element (NM-1) from the night monkey are very closely related to the human-specific HERV-K LTR elements with low degree of divergence. This finding suggests that some of LTR elements of HERV-K family have recently been proliferated in New World monkeys. A sequence in chromosome Xq26(AL034407) \ulcorner contains an HERV-K LTR element was shown to be present in the human genome, but is absent in the bonobo, chimpanzee, gorilla, orangutan, and gibbon. It has more than 99% homology to other human-specific HERV-K LTR elements. This sequence thus represents and isolated insertion of an evolving class of elements that may have made a particular contribution to human genomic plasticity.

• Asian-Australasian Journal of Animal Sciences
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• v.15 no.5
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• pp.615-621
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• 2002

We investigated the effects of the mitogen supplements of 3 types, pokeweed mitogen (PWM), phytohemagglutinin (PHA) and concanavalin A (ConA), to a whole blood culture system on the number of metaphase spreads obtained in perinatal bovine chromosome analysis. In addition, the supplementation of ${\beta}$-mercaptoethanol (${\beta}$-ME) and FBS was examined in such system. Significant differences (p<0.05) were seen in the number of metaphase spreads with PHA stimulation compared to both PWM and ConA stimulation. When examined the effects of ${\beta}$-ME supplementation, the number of metaphase spreads was significantly (p<0.05) increased at $30{\mu}M$ ${\beta}$-ME compared to control. When evaluated FBS supplementation during PWM stimulation, no significant effect of the supplementation was found. Finally, the effects of the cortisol concentration (10-20, 20-30 and >30 ng/ml) of the blood samples were examined. There was no significant effect of cortisol concentration (p>0.05) among these 3 cortisol concentration groups. The mean percentages of normal metaphase plates (2n=60) from each calf 1) with ${\beta}$-ME, 2) without ${\beta}$-ME and 3) with FBS stimulated with PWM were not significantly different (p>0.05). In conclusion, these findings may be useful in cytogenetic screening programs for not only perinatal calves but also for mature cattle.

• Animal Bioscience
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• v.36 no.1
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• pp.19-28
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• 2023

Objective: The objective of this study was to perform genome (genome wide association studies [GWAS]) and chromosome (CWAS) wide association analyses to identify single nucleotide polymorphisms (SNPs) associated with growth traits in registered Simmental and Simbrah cattle. Methods: The phenotypes were deregressed BLUP EBVs for birth weight, weaning weight direct, weaning weight maternal, and yearling weight. The genotyping was performed with the GGP Bovine 150k chip. After the quality control analysis, 105,129 autosomal SNP from 967 animals (473 Simmental and 494 Simbrah) were used to carry out genotype association tests. The two association analyses were performed per breed and using combined information of the two breeds. The SNP associated with growth traits were mapped to their corresponding genes at 100 kb on either side. Results: A difference in magnitude of posterior probabilities was found across breeds between genome and chromosome wide association analyses. A total of 110, 143, and 302 SNP were associated with GWAS and CWAS for growth traits in the Simmental-, Simbrah- and joint -data analyses, respectively. It stands out from the enrichment analysis of the pathways for RNA polymerase (POLR2G, POLR3E) and GABAergic synapse (GABRR1, GABRR3) for Simmental cattle and p53 signaling pathway (BID, SERPINB5) for Simbrah cattle. Conclusion: Only 6,265% of the markers associated with growth traits were found using CWAS and GWAS. The associated markers using the CWAS analysis, which were not associated using the GWAS, represents information that due to the model and priors was not associated with the traits.

• Proceedings of the Plant Resources Society of Korea Conference
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• 2020.08a
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• pp.49-49
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• 2020

Bacterial leaf blight (BLB), caused by X. oryzae pv. oryzae(Xoo), is one of the most destructive diseases of rice due to its high epidemic potential. Understanding BLB resistance at a genetic level is important to further improve the rice breeding that provides one of the best approaches to control BLB disease. In the present investigation, a total of 10,000 accessions of rice germplasm were tested to resistance degree of four Korean isolated races (K1, K2, K3 and K3a) of Xoo by bioassay and a diverse 268 accessions was selected to the genome-wide association study (GWAS) using high quality 34,724 SNPs to identify the associated with resistance loci. LOC_Os04g53160 of chromosome 4 was significantly associated with K1 race resistant. LOC_Os11g46230 and LOC_Os11g47150 of chromosome 11 were highly associated with K2 and K3 races as 23.7 and 27.4 of -log(P) value, but K3a resistant loci was weakly associated at LOC_Os03g55270 of chromosome 3. The results of the GWAS validate known gene of BLB resistant and identified novel loci of R genes that provide useful targets for further investigation to help the breeding system and identified gene and QTL provide valuable sources for further functional characterization.

• Journal of Preventive Medicine and Public Health
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• v.31 no.4 s.63
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• pp.616-627
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• 1998

In order to evaluate the cytogenetic hazard among hospital workers potentially exposed to low dose of radiation, the analysis of chromosome aberrations(CA) and sister chromatid exchanges(SCE) in lymphocytes were performed in 79 hospital workers and 79 non-exposed workers. The mean frequency of chromosomal exchange and deletion(respectively, $0.20\times10^{-2}/cell\;and\;0.39\times10^{-2}/cell$) in the exposed group were significantly higher than those$(0.07\times10^{-2}/cell\;and\;0.23\times10^{-2}/cell)$ in control group. The frequency of sister chromatid exchanges was 5.04/cell in the control vs. 6.57/cell in the exposed group. There were also significant differences in the mean frequencies of CA and SCE adjusted for age, sex, smoking, drinking between two groups. There were no evidence of significant increase of CA and SCE according to the department or duration of employment. But the frequency of cells having chromosome aberration was significantly higher in the exposed group than in the control group related to duration of employment. There was no dose-effect relationship between the cumulative doses and the frequency of CA and SCE. But in the case of last 1 yr cumulative dose, there were evidence of significant dose-dependant increase of chromosome type CA and percentage of cells with aberration. The result suggest that there is cytogenetic hazard in risk group like hospital workers handling low dose radiation. And the analysis CA and SCE are useful biological indicators for the exposure of low dose level of radiation.

• Journal of Aquaculture
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• v.20 no.2
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• pp.140-143
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• 2007

Cytogenetic analyses of an endemic species, Coreoleuciscus splendidus (Cyprinidae) was performed including erythrocyte measurement, chromosome count and karyotyping, nucleolar organizing region (NOR) banding and flow cytometric analysis of genome size. C. splendidus had the same modal chromosome number of 2n = 48 between sexes, however, displayed a sex-related dimorphism in their chromosome karyotypes. Males represented a pair of heteromorphic chromosomes which couldn‘t be seen in any female individuals, indicating that the sex determination mechanism of this species should be a typical XX-XY based male heterogamety (female=10M+6SM+8A+XX vs male=10M+6SM+8A+XY). Other cytogenetic features such as Ag-NORs located in a pair of acrocentric chromosomes, estimated nuclear volume ($28{\mu}m^3$) and cellular DNA content (2.4 pg/cell) suggest that genetic recombination might be the main driving force responsible for the evolution of this species rather than the polyploidy-based evolutionary process as in many other Cyprinidae species.

• Asian-Australasian Journal of Animal Sciences
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• v.14 no.8
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• pp.1188-1195
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• 2001

A tetraparental chimeric bull was successfully produced by aggregating bovine IVF embryos of F1 (female Holstein${\times}$male Japanese Black) and F1(female Japanese Brown${\times}$male Limousin) and culturing in vitro without the zona pellucida at Yamaguchi Research Station in Japan. In the microsatellite genotyping, 12% (28/228) microsatellite primer sets ware potentially useful for this parentage analysis in the chimeric bull, 78.6% (22/28) of microsatellite present in the chimeric bull were uniquely contributed from the Japanese Black and 21.4% (6/28) from Limousin. This chimeric bull semen was used in producing IVF embryos. The chromosome preparations were made from peripheral lymphocytes. Based on chromosome analysis the Chimera had apparently normal chromosomes (29 acrocentric pairs, one large sub metacentric X chromosome and one small sub metacentric Y chromosome). The proportion of acrosome reacted spermatozoa after 1 h of incubation was higher (p<0.01) with the Chimera than with the Holstein and in Japanese Brown bulls. But did not differ from Japanese Black and Limousin bull sperm. Fertilization rates observed after 5 h of sperm-oocyte incubation with Chimera sperm were higher (p<0.05) than with Japanese Brown and (p<0.01) than with Holstein sperm, but did not differ from Japanese Black and Limousin sperm. The cleavage rates of IVF oocytes inseminated with Chimera sperm were also higher (p<0.001) compared with Holstein, (p<0.01) Japanese Brown and (p<0.05) Limousin, but did not differ from Japanese Black sperm. The blastocyst rates of IVM oocytes inseminated with sperm were higher (p<0.05) than in Limousin, Japanese Brown and Holstein, but did not differ from Japanese Black. Chimeric cattles were produced by aggregation of parthenogenetic (Japanese Brown) and in vitro fertilized (Holstein) bovine embryos at the Yamaguchi Research Station in Japan and by aggregation of parthenogenetic (Red Angus) and in vitro fertilized (Holstein) embryos at the St. Gabriel Research Station in Louisiana. The aggregation rate of the reconstructed demi-embryos cultured in vitro without agar embedding was significantly lower than with agar embedding. The aggregation was also lower when the aggregation resulted from a whole parthenogenetic and IVF-derieved embryos cultured without agar than when cultured with agar. The development rate to blastocysts, however, was not different among the treatment. To verify parthenogenetic and the cells derieved from the male IVF embryos in blastocyst formation, 51 embryos were karyotyped, resulting in 27 embryos having both XX and XY chromosome plates in the same sample, 14 embryos with XY and 10 embryos with XX. The viability and the percentage of zonafree chimeric embryos at 24 h following cryopreservation in EG plus T with 10% PVP were significantly greater than those cryopreserved without PVP. Pregnancies were diagnosed in both stations after the transfer of chimeric blastocysts. Twin male and single chimeric calves were delivered at the Yamaguchi station, with each having both XX and XY chromosomes detected. Three pregnancies resulted from the transfer of 40 chimeric embryos at the Louisiana station. Two pregnancies were Jost prior to 4 months and one phenotypically chimeric viable male born.

• Clinical and Experimental Reproductive Medicine
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• v.26 no.3
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• pp.363-368
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• 1999

This study was to confirm whether the vitrification method using EFS40 freezing solution has detrimental effect on the cytoskeleton and chromosome constitution of the immature mouse oocytes by indirect immunocytochemistry and chromosome analysis. Immature mouse oocytes were vitrified using EFS40 (40% EG, 18% ficoll, 0.5 M sucrose diluted in M2 medium), thawed and then survived oocytes were in vitro matured for 16 hr. When the microtubule morphology and micro filament distribution in vitrified-thawed immature mouse oocytes were examined, normal percentage of two cytoskeleton in vitrified group (93.9 and 100.0%) was not significantly different from that in control (100.0 and 100.0%) and exposed group (94.4 and 100.0%). The rate of oocytes containing a normal chromosome number in vitrified group was 65.8%, this result was not significantly different from that in control (79.6%) and exposed group (69.0%). These results indicated that exposure to cryoprotectant or freezing has not effect on the alteration of cytoskeleton morphology and the chromosome constitution of mouse oocytes and that our vitrification methods using EFS40 freezing solution was suitable for the cryopreservation of immature mouse oocytes.