• Clinical and Experimental Reproductive Medicine
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• v.26 no.2
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• pp.293-296
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• 1999

Different Y mutation in Yq11 occurring de novo in sterile males were first described 19 years ago. Since the phenotype of the patients was always associated with azoospermia or severe oligospermia, it was postulated that these mutations interrupt a Y spermatogenesis locus in the euchromatic Y region (Yq11) called azoospermia factor (AZF). Recently, it became possible to map AZF mutations to different subregions in Yq11by molecular deletion mapping. This indicated that azoospermia is possibly caused by more than one Y gene in Yq11 and the Yq11 chromatin structure. The frequency of AZF mutations in idiopathic sterile males $(5{\sim}20%)$ may indicate a need for a general screening programme for its analysis in infertility clinic. We have experienced a case of deletion distal to Yq11 region in azoospermic patient. So we report this case with a brief review of literatures.

• Mycobiology
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• v.48 no.2
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• pp.148-152
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• 2020

We investigated the antifungal susceptibilities and the cyp51 mutant strains among Aspergillus fumigatus clinical isolates obtained from 10 university hospitals in Korea. Of the 84 isolates examined, two itraconazole-resistant isolates were found with no amino acid substitution in the cyp51A/cyp51B genes. However, 19 (23.2%) azole-susceptible isolates harbored amino acid substitutions: Nine isolates harbored one to five mutations in cyp51A with high polymorphism, and 11 isolates exhibited the same Q42L mutation in cyp51B. Overall, a low azole resistance rate and high frequency of cyp51A/cyp51B amino acid substitutions were observed in the azole-susceptible A. fumigatus isolates in Korea.

• Korean Journal of Breeding Science
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• v.41 no.1
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• pp.9-15
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• 2009

Recently, giant embryonic rice and functional rice food are preferred by more consumers, which are attributed to the fact that the embryo has high concentrations of essential amino acids, fatty acids, and vitamins relative to other parts of rice grains. In this report, the heredity and stability of giant embryo mutations in successive generations were analyzed regarding a giant embryonic line, 'P47', induced by T-DNA insertion and a $F_2$ population from a cross between 'P47' and 'Junam'. The mutant lines with increases of 1.5, 1.7 and 1.8 times on embryo length, width and 100-embryo weight to those of the control showed stable inheritance across three generations. The continuous frequency distributions of embryo size in the $F_2$ population showed that the embryo size is a quantitative trait of polygene controlled. In addition, wide range of transgressive segregations of six traits affecting embryo size confirmed exchange of genetic materials and recombination between genes controlling embryo size. Five giant embryo mutant lines selected from the $F_2$ population will be used for artificial selection and improvement of giant embryonic varieties.

• Genomics & Informatics
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• v.20 no.3
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• pp.28.1-28.7
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• 2022

We described a clinical, laboratory, and genetic presentation of a pathogenic variant of the CYP1B1 gene through a report of a case of primary congenital glaucoma and a trio analysis of this candidate variant in the family with the Sanger sequencing method and eventually completed our study with the secondary/incidental findings. This study reports a rare case of primary congenital glaucoma, an 8-year-old female child with a negative family history of glaucoma and uncontrolled intraocular pressure. This case's whole-exome sequencing data analysis presents a homozygous pathogenic single nucleotide variant in the CYP1B1 gene (NM_000104:exon3:c.G1103A:p.R368H). At the same time, this pathogenic variant was obtained as a heterozygous state in her unaffected father but not her mother. The diagnosis was made based on molecular findings of whole-exome sequencing data analysis. Therefore, the clinical reports and bioinformatics findings supported the relation between the candidate pathogenic variant and the disease. However, it should not be forgotten that primary congenital glaucoma is not peculiar to the CYP1B1 gene. Since the chance of developing autosomal recessive disorders with low allele frequency and unrelated parents is extraordinary in offspring. However, further data analysis of whole-exome sequencing and Sanger sequencing method were applied to obtain the type of mutation and how it was carried to the offspring.

• Mycobiology
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• v.50 no.6
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• pp.408-419
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• 2022

Filamentous fungi that could be classified into Aspergillus flavus/oryzae were isolated from traditionally fermented meju commercially available in Korea. The samples were analyzed for aflatoxin B1 and ochratoxin A contamination by HPLC; however, no toxin was detected. In addition, fungal and bacterial metagenomic sequencing were performed to analyze the microbial distribution in the samples. The results revealed that the distribution and abundance of fungi and bacteria differed considerably depending on the production regions and fermentation conditions of the meju samples. Through morphological analysis, ITS region sequencing, and assessment of the aflatoxin-producing ability, a total of 32 A. flavus/oryzae strains were identified. PCR analysis of six regions with a high mutation frequency in the aflatoxin gene cluster (AGC) revealed a total of six types of AGC breaking point patterns. The A. flavus/oryzae strains did not exhibit the high amylase activity detected in the commercial yellow koji strain (starter mold). However, their peptidase and lipase activities were generally higher than that of the koji isolates. We verified the safety of the traditionally fermented meju samples by analyzing the AGC breaking point pattern and the enzyme activities of A. flavus/oryzae strains isolated from the samples. The isolated strains could possibly be used as starter molds for soybean fermentation.

• Asian-Australasian Journal of Animal Sciences
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• v.24 no.7
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• pp.905-911
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• 2011

Polymorphisms of BMP15 gene exon 2 and its relationship with prolificacy of goats were detected by PCR-SSCP and DNA sequencing methods in Chinese two local goat breeds. The results showed that the product amplified by the primers displayed polymorphisms. Three genotypes (AA, BB and AB) were detected in Funiu white goats, and their frequency was 0.071, 0.715, 0.214, respectively. Two genotypes (AB and BB) were detected in Taihang black goats, and their frequency was 0.342 and 0.658, respectively. Sequencing revealed that four mutations (456T${\rightarrow}$G, 466C${\rightarrow}$G, 510C${\rightarrow}$T, 511T${\rightarrow}$C) occurred in genotype BB of Funiu white goat, which resulted in amino acid substitution of V155G and S171P. No mutation was detected in Taihang black goat. The Funiu white goat with genotype BB had 0.91 or 0.82 kids, more than those with AB or AA, respectively. The difference of the least squares means for litter size between BB and AB was not significant (p>0.05) in Taihang black goat. It is concluded that the BMP15 gene may be a major gene which affects the prolificacy in Funiu white goats. This study could provide basic molecular data on the reproductive characteristics of local breeds of Henan province in China, and a scientific basis for the conservation and utilization of those two goat breeds.

• Asian-Australasian Journal of Animal Sciences
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• v.24 no.9
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• pp.1179-1183
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• 2011

The incidence of mutation in three loci of GDF9, BMP15 and BMP15-1B and their effects on litter sizes was evaluated in Baluchi sheep. Wild-type alleles were detected for BMP15 and BMP15-1B loci and all individuals were found to be as non-carriers for FecB and $FecX^G$ mutations but, a G to A nucleotide substitution was found in GDF9 locus. The frequency of $FecG^+$ (0.82) wild type allele was higher than the frequency of $FecG^l$ (0.18) mutant allele and the frequencies of $FecG^+/FecG^+$, $FecG^+/FecG^1$ and $FecG^1/FecG^1$ genotypes were 0.72, 0.20 and 0.08, respectively in GDF9 locus. The heterozygous ($FecG^+/FecG^1$) and homozygous ($FecG^+/FecG^+$) non-carrier ewes had 0.35 and 0.21 more lambs than the homozygous ($FecG^1/FecG^1$) carrier ewes, respectively (p<0.05). In addition to the finding of segregation of non-additive gene effect on litter size in the previous study in Baluchi sheep, these findings for the first time shows that the $FecG^1$ gene has a major effect on litter size in this breed.

• Toxicological Research
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• v.18 no.2
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• pp.129-138
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• 2002

The mouse lymphoma assay (MLA) has been recently validated as a sensitive and specific test system to determine the genotoxic potential for a chemical. The objective of this study is to evaluate the utility of MLA for detecting mutagens. Especially, to compare MLA with the in vitro chromosomal aberration test (CA), we performed MLA using the microwell method with three chemicals (hydroxyurea, theophylline and amino acid copper complex), which were reportedly positive in the CA. In cell treated with hydroxyurea, anti-neoplastic agent that blocks DNA replication, evidence of a positive response was obtained without S9 mix for 4 h and 24 h. In addition, analysis of colony size distribution at concentration that gave an elevated mutant fraction showed that hydroxyurea induced a high proportion of small type colonies, indicating that hydroxyurea-induced mutation is associated with large chromosomal deletion. Conversely, negative MLA result was obtained for theophylline, which was wed as central nervous system stimulator. Although theophylline increased the mutant frequency at concentration of 1250 $\mu\textrm{g}$/$\textrm{m}{\ell}$ with S9 mix for 4 h, a concentration-related increase in mutant frequency was not observed. The MLA result of amino acid copper complex was considered equivocal because the positive result was obtained at concentration showing 10% or less RS or RTG. Thus, among 3 CA-positive chemicals, positive MLA result was obtained for one. The other two chemicals were negative and equivocal. However MLA, which evaluates mutagenic potential of chemicals through colony formation by cell grouth, may provide a higher predictivity of carcinogenesis than CA.

• The Korean Journal of Zoology
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• v.33 no.1
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• pp.6-11
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• 1990

Analysis of genetic structure in Kimpo natural population of Drosophila was carried out by utilizing the deleterious gene on the second chromosome of Drosophila melanogaster. Male flies tested were continuously collected for eight years; in late September 1974 and 1981-1987. The frequency of deleterious gene (lethal plus semilethal) ranged from 27.02% in 1983 to 41.48% in 1987, and the values estimated from the eight years samples are highly signihcent from each other with a homogenety test (X$^2$=52.0157, d.f.=28, P<0.005). Allelic rates ranged from 1.30% in 1981 to 5.03% in 1974. And the effective population size by using the rate of allelism was estimated average at 3, 300 pairs. Elimination rate by homozygous of lethal gene ranged from 0.0004 in 1984 to 0.0019 in 1974, and that is for smaller than mutation rate(0.005) at second chromosome. We suppose that stable frequency (about 20%) lethal genes of D. melanogaster in Kimpo natual population are maintained by invade of P-type mutator factor (P element) versus eliminated in heterozygous and homozygous condition of lethal gene.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.9
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• pp.3927-3932
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• 2014

Background: Epidermal growth factor receptor (EGFR) mutations and echinoderm microtubule associated protein like 4-anaplastic lymphoma kinase (EML4-ALK) define specific molecular subsets of lung adenocarcinomas with distinct clinical features. Our purpose was to analyze clinical features and prognostic value of EGFR gene mutations and the EML4-ALK fusion gene in lung adenocarcinoma. Patients and Methods: EGFR gene mutations and the EML4-ALK fusion gene were detected in 92 lung adenocarcinoma patients in China. Tumor marker levels before first treatment were measured by electrochemiluminescence immunoassay. Results: EGFR mutations were found in 40.2% (37/92) of lung adenocarcinoma patients, being identified at high frequencies in never-smokers (48.3% vs. 26.5% in smokers; P=0.040) and in patients with abnormal serum carcinoembryonic antigen (CEA) levels before the initial treatment (58.3% vs. 28.6%, P=0.004). Multivariate analysis revealed that a higher serum CEA level before the initial treatment was independently associated with EGFR gene mutations (95%CI: 1.476~11.343, P=0.007). We also identified 8 patients who harbored the EML4-ALK fusion gene (8.7%, 8/92). In concordance with previous reports, younger age was a clinical feature for these (P=0.008). Seven of the positive cases were never smokers, and no coexistence with EGFR mutation was discovered. In addition, the frequency of the EML4-ALK fusion gene among patients with a serum CEA concentration below 5ng/ml seemed to be higher than patients with a concentration over 5ng/ml (P=0.021). No significant difference was observed for time to progression and overall survival between EML4-ALK-positive group and EML4-ALK-negative group or between patients with and without an EGFR mutation. Conclusions: The serum CEA level before the initial treatment may be helpful in screening population for EGFR mutations or EML4-ALK fusion gene presence in lung adenocarcinoma patients.