• Journal of agriculture & life science
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• v.46 no.5
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• pp.73-82
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• 2012

Allele information from the analysis of the 13 microsatellite (MS) markers, were classified into the $F_0$, $F_1$ and $F_2$ generations, and probabilities of the same individual emergency in each generation was calculated. As a result, the 13 MS markers showed an estimate of $3.84{\times}10^{-23}$ on the premise of the randomly mated group of $F_2$, which implies that the same individuals may emerge by the use of 37 kinds of SNP markers. In this study, the experimental pigs were intercross between only 2 breeds (Korean native pig and Landrace). In addition, the success rate of paternity tests was analyzed on the whole group, by the use of the 13 MS markers and 37 SNP markers. As regards the exclusionary power of the second parent ($PE_{pu}$), MS markers and SNP markers showed 0.97897 and 0.99149, respectively. In relation to the parent exclusion power of both parent (PE), MS markers and SNP markers showed 0.99916 and 0.99949, respectively. In the case of the estimate to identify parental candidates that had the highest probability ($PNE_{pp}$), the two showed 1.00000 all. The Korean pig industry tends to mass produce hogs with limited numbers of alleles in limited parents. Such being the case, there is a need to organize a marker, for which it is imperative to find markers with high efficiency and high economic feasibility of the characteristics of DNA markers, sample size, the accuracy and expenses of genotyping cost, the manageability of data and the compatibility among analysis systems.

• Korean Journal of Breeding Science
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• v.43 no.1
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• pp.42-49
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• 2011

QTL analysis for blast resistance was carried out using 140 $BC_3F_3$ lines derived from a cross between Ilpum as a recurrent parent and Moroberekan as a donor parent. 140 $BC_3F_3$ lines with the parents were inoculated with nine blast isolates. To identify QTLs for resistance to nine blast isolates, 134 SSR markers showing polymorphisms between the parents were genotyped for the 140 $BC_3F_3$ lines. A total of 17 resistance QTLs to nine isolates were detected on chromosomes 2, 3, 4, 6, 7, 9 and 10. The phenotypic variance explained by each QTL ranged from 8.2% to 26.4%. The Moroberekan alleles contributed the positive effect at these 17 QTL loci. In a previous study, the QTL, Pi45(t) for durable resistance to blast was identified using a sequential planting method. To know the relationship between Pi45(t) and the isolate-specific resistance gene, an $F_2$ population was developed from a cross between Ilpum and an introgression line harboring Pi45(t). $F_3$ lines segregating for the Pi45(t) were inoculated to three isolates. $F_3$ lines from the $F_2$ plants with the Moroberekan segment at the target region showed resistance to two isolates. This result seems to indicate that the Pi45(t) and the isolate-specific resistance gene are tightly linked or the resistance is controlled by the same gene(s). The markers linked to genes controlling blast resistance would be useful in developing blast resistance lines in the breeding program.

• Journal of Life Science
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• v.31 no.10
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• pp.913-921
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• 2021

Limb-girdle muscular dystrophy (LGMD) which is characterized by progressive muscle weakening of the hip and shoulder shows both dominant and recessive inheritances with many pathogenic genes including TTN. This study performed to identify genetic causes of a male patient with late onset (45 years old) autosomal recessive LGMD and atrial flutter. By application of the whole exome sequencing, we identified bi-allelic variants of TTN gene in the patient. One allele had a single missense variant of [c.24124G>T (p.V8042F)], while the other allele consisted of three missense variants of [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]. The p.V8042F allele was transmitted from his mother, while the other haplotype allele was putatively transmitted from his father. His two unaffected sons had only the p.R9741P. These variants have been not reported or rarely reported in the public human genome databases (1,000 Genome, gnomAD, and KRGDB). Most variants were located in the highly conserved immunoglobulin or fibronectin domains and were predicted to be pathogenic by the in silico analyses. The TTN giant protein plays a key role in muscle assembly, force transmission at the Z-line, and maintenance of resting tension in the I-band. In conclusion, we think that these bi-allelic compound heterozygous mutations may play a role as the genetic causes of the LGMD phenotype.

• Korean Journal of Breeding Science
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• v.41 no.2
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• pp.106-114
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• 2009

In maize, knowledge of genetic diversity and genetic relationships among elite inbred lines is an significant impact on the selection of parental lines for hybrid varieties. Genetic diversity and genetic relationships among 11 parental inbred lines of Korean waxy and normal corn varieties were analyzed using 50 SSR markers distributed over the whole genome. A total of 171 allele bands were detected with an average of 3.4 alleles per locus. Number of allele bands per locus ranged from two to six and gene diversity varied from 0.165 to 0.900 with an average of 0.596 depending on the SSR loci. The cluster tree recognized three major groups with 61.6% genetic similarity. Group I includes 7 inbred lines (KL103, HW1, HW4, HW6, HW7, HW8, HW9), with similarity coefficients of between 0.616 and 0.730. Group II includes 2 inbred lines (HF1, HF2), with similarity coefficients of 0.959. Group III includes 2 inbred lines (HW3, HW5), with similarity coefficients of 0.713. The present study indicates that the SSR markers chosen for this analysis are effective for the assessment of genetic diversity and genetic relationships among 11 parental inbred lines.

• Korean Journal of Breeding Science
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• v.43 no.5
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• pp.413-421
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• 2011

The main objective of this study was to develop the multi-resistance lines to insects(brown planthopper; BPH, rice green leafhopper; GRH) and disease(blast; BL, bacterial blight; BB and rice stripe virus disease;RSV) with good grain quality and plant type by combining conventional breeding and marker assisted selection(MAS) and to eliminate the linkage drag effects between Bph1 gene and culm length, we conducted MAS of Bph1 gene in advanced backcross and double cross progenies. 'Nampyeong', 'Junam' and 'Milyang220' were used as the parent in this study. 'Milyang220' was used as the donor of brown planthopper resistance gene Bph1 with tall culm length. Two backcross progenies were developed using two recipients 'Nampyeong' carrying GRH resistance gene Grh3(t) with good grain appearance and 'Junam' harboring bacterial blight resistance gene Xa3 with short culm length. Two $BC_1$ generations were resulted from the backcrossing of the $F_1$ plants with recurrent parents 'Nampyeong' and 'Junam'. The second rounds of backcrossing($BC_2$) were derived from the cross of selected resistant $BC_1F_1$ plants based on heterozygous genotype of RM28493 linked to Bph1 gene. The double crossed population was constructed from the cross of between each heterozygous $BC_2F_1$ plants at RM28493 locus of '$Nampyeong^*3$ / Milyang220' and '$Junam^*3$ / Milyang220'., The homozygous alleles in Bph1 gene were selected using co-dominant DNA marker RM28493 in double crossed population. Eighty-five lines with multi-resistance to BL, BB, RSV, GRH and BPH were selected by bio-assay and MAS in generation of double crossing. The culm length, head rice ratio and yield of the selected multi resistance lines was ranged from 71 to 88 cm, from 51 to 93%, from 449 to 629 kg/10a. respectively. We can select a promising multi resistance line similar with 'Nampyeong' of major agronomic traits such as culm legnth, head rice ratio and yield. It was designated as Milyang265. Finally this study was developed the multi resistant varieties against to insects and diseases with the good grain quality 'Milyang265' by the advanced backcross and double cross combining MAS and it can be used as genetic resources of multi-resistance to insect and diseases in rice breeding programs.

• Journal of Plant Biotechnology
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• v.45 no.4
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• pp.382-391
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• 2018

The objective of this study was to determine the most effective medium condition of shoot proliferation and root formation for the efficient in vitro micropropagation of M.26 (Malus pumila Mill). Simple sequence repeat (SSR) markers were used to analyze the genetic diversity of micro-propagated and greenhouse grown M.26. Shoot proliferation was carried out in MS (Murashige and Skoog) containing benzyladenin (BA, $0.5{\sim}5.0mg{\cdot}L^{-1}$) and thidiazuron (TDZ, $0.01{\sim}0.1mg{\cdot}L^{-1}$). The highest number of shoots (10.67 shoots per explant) was induced by adding BA at a concentration $1.0mg{\cdot}L^{-1}$. TDZ treatments caused higher hyperhydricity rate in cultured explants than in BA treatments. There was no significant effect of both BA and auxin on shoot proliferation, and the optimum proliferation medium for M.26 was MS medium containing $1.0mg{\cdot}L^{-1}$ BA. To find a suitable medium composition for shoot rooting, we tested different concentrations indole-3-butyric acid (IBA) and ${\alpha}$-naphthaleneacetic acid ($0.5{\sim}5.0mg{\cdot}L^{-1}$), MS medium (1/4-1), sucrose ($0{\sim}30g{\cdot}L^{-1}$). The shoots showed good rooting on half-strength MS medium containing $1.0mg{\cdot}L^{-1}$ IBA and $15-20g{\cdot}L^{-1}$ sucrose. The rooting rate (100%), number of roots (10.45 ~ 13.60 roots per explant), root length (7.41 ~ 8.33 cm), and shoot length (4.93 ~ 5.38 cm) were good on this medium. Fifteen SSR primers were detected in a total of 30 alleles in 20 micro-propagated plantlets, all SSR profiles from micro-propagated plantlets were monomorphic and similar to greenhouse grown control plantlet M.26 plant. The results indicated that M.26 micro-propagated plantlets were genetically stable.

• Journal of Korean Society of Forest Science
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• v.100 no.4
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• pp.577-584
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• 2011

To estimate level of genetic variation and genetic differentiation among populations of 3 populations in Abies koreana and 5 populations in Abies nephrolepis, 5 nSSR markers were analyzed. Except 1 locus where too many alleles were observed excessively, population genetic parameters were recalculated with 4 loci. Mean expected heterozygosities ($H_e$) were 0.292 in A. koreana and 0.220 in A. nephrolepis, respectively. In both species, positive fixation coefficient was estimated (F=0.065 for A. koreana and F=0.095 for A. nephrolepis), which suggests that there is an excess of homozygotes relative to Hardy-Weinberg expectations within populations. Relatively high degree of population differentiation was observed in A. koreana ($F_{ST}=0.063$). compared to that of A. nephrolepis ($F_{ST}=0.039$). From 3-level Hierarchical estimation of F-staticstics, only 4.9% of the genetic variation was allocated between species ($F_{PT}$), which suggested that most of genetic variation was shared between two species. On the basis of results from analysis of genetic relationships among populations, 2 populations of A. koreana (Mt. Halla and Mt. Deogyu) were genetically distinct from the populations of A. nephrolepis but a population of Mt. Jiri was allocated within a group of populations of A. nephrolepis. Populations of both species seemed to have undergone genetic drift due to gradual decrease in population size induced by global warming after the last glacier, which resulted in increase of homozygotes by inbreeding. It could be also postulated that these species might be diverged recently and It is likely that the two species have not fully speciated yet.

• Journal of Life Science
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• v.31 no.5
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• pp.453-463
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• 2021

Hearing loss is a group of clinically and genetically heterogeneous disorders characterized by congenital- to adult-onset deafness with frequent additional symptoms such as myopathy, nephropathy, and optic disorders. It is commonly divided into two types: syndromic, with no other symptoms, and nonsyndromic, with other symptoms. Autosomal recessive hearing loss is relatively frequent in Pakistan, which may be due in part to frequent consanguineous marriages. This study was performed by whole exome sequencing to determine the genetic causes in two Pakistani consanguineous families with autosomal recessive hearing loss. We identified a pathogenic homozygous variant (p.Leu326Gln in MYO7A) in a family with prelingual-onset hearing loss and two variants of uncertain significance (p.Val3094Ile in GPR98 and p.Asp56Gly in PLA2G6) in a family with early-onset hearing loss concurrent with muscular atrophy. The missense mutations in MYO7A and PLA2G6 were located in the highly conserved sites, and in silico analyses predicted pathogenicity, while the GPR98 mutation was located in the less conserved site, and most in silico analysis programs predicted its nonpathogenic effect. Homozygosity mapping showed that both alleles of the homozygous mutations identified in each family originated from a single founder; spread from this single source might be due to consanguineous marriages. This study will help provide exact molecular diagnosis and treatment for autosomal recessive hearing loss patients in Pakistan.

• Journal of Life Science
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• v.32 no.12
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• pp.947-955
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• 2022

Silkworms, which have recently shown promise as functional health foods, show functional differences between varieties; therefore, the need for variety identification is emerging. In this study, we analyzed the whole silkworm genome to identify 10 unique silkworm varieties (Baekhwang, Baekok, Daebaek, Daebak, Daehwang, Goldensilk, Hansaeng, Joohwang, Kumkang, and Kumok) using single nucleotide polymorphisms (SNP) present in the genome as biomarkers. In addition, nine SNPs were selected to discriminate between varieties by selecting SNPs specific to each variety. We subsequently created a decision tree capable of cross-verifying each variety and classifying the varieties through sequential analysis. Restriction fragment length polymorphism (RFLP) was used for SNP867 and SNP9183 to differentiate between the varieties of Daehwang and Goldensilk and between Kumkang and Daebak, respectively. A tetra-primer amplification refractory (T-ARMS) mutation was used to analyze the remaining SNPs. As a result, we could isolate the same group or select an individual variety using the nine unique SNPs from SNP780 to SNP9183. Furthermore, nucleotide sequence analysis for the region confirmed that the alleles were identical. In conclusion, our results show that combining SNP analysis of the whole silkworm genome with the decision tree is of high value as a discriminative marker for classifying silkworm varieties.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.67 no.4
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• pp.265-273
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• 2022

Waxy corn (Zea mays L.), which contains homozygous mutant alleles for the waxy1 (wx1) gene, is widely consumed as a snack food in Asia. This study evaluated sixteen agronomic characteristics of inbred Korean waxy corn lines to aid development of high-quality waxy corn cultivars. The plant materials studied were 177 inbred waxy corn lines developed by the National Institute of Crop Science, Rural Development Administration, Republic of Korea. For the tested lines, days to tasseling and silking averaged 77.69±2.22 days (with a range of 56-97 days), and 81.12±7.56 days (66-99 days), respectively. Plant length ranged from 88 to 237 cm (averaged 164.88±22.67 cm), ear length averaged 11.75±2.52 cm (5.0-18.5 cm), and ear width averaged 2.94±0.68 cm (1.4-4.5 cm). The number of rows on each ear of corn averaged 12.22±2.22 (7-32 rows) and the kernel number averaged 24.30±4.22 (9-37 kernels) per row. The crude protein content was 12.05±1.53% (8.90-21.80%) and total starch content was 69.27±5.74% (49.5-83.9%). Principal component analysis revealed that ear width, grain length, ear length, days to tasseling, days to silking, percentage of ear setting height, and total starch are features that allow distinction between the 177 waxy inbred corn lines. Hierarchical cluster analysis identified twelve waxy inbred lines that produce tall plants and have a short silking period. These lines may improve yield among quickly growing corn varieties.